description: Triangular shaped proximal phalanx of the thumb.


Absent proximal phalanx of thumb

category: biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


Short proximal phalanx of thumb

description: Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


name: Synostosis of the proximal phalanx of the thumb with the 1st metacarpal

description: Fusion of the proximal phalanx of the thumb with the 1st metacarpal.


name: Aplasia/Hypoplasia of the distal phalanx of the thumb


Broad distal phalanx of the thumb

description: Increased width of the distal phalanx of thumb.


name: Bullet-shaped distal phalanx of the thumb

description: Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the thumb is affected.


Curved distal phalanx of the thumb

description: A deviation from the normal straight shape of the distal phalanx of the thumb.


name: Osteolytic defect of the distal phalanx of the thumb

description: Dissolution or degeneration of bone tissue of the distal phalanx of the thumb.


name: Patchy sclerosis of the distal phalanx of the thumb

description: An uneven increase in bone density of the distal phalanx of the thumb.


description: Triangular shaped distal phalanx of the thumb. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


name: Aplasia of the distal phalanx of the thumb

description: Absence of the distal/terminal phalanx of the thumb.


Short distal phalanx of the thumb

description: Hypoplastic (short) distal phalanx of the thumb.


Bullet-shaped thumb phalanx

description: An abnormal morphology of one or more phalanges of the thumb, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Curved thumb phalanx

description: A deviation from the normal straight shape of a thumb phalanx.


Osteolytic defect of thumb phalanx

description: Dissolution or degeneration of bone tissue of one or more phalanges of the thumb.


Patchy sclerosis of thumb phalanx

description: An uneven increase in bone density of one or more of the phalanges of the thumb.


Symphalangism of the thumb

description: Congenital fusion (ankylosis) of the interphalangeal joint of the thumb.


Triangular shaped thumb phalanx

description: Abnormal shape of one or more phalanges of the thumb such that affected phalanges resemble a triangle.


name: Aplasia/Hypoplasia of the phalanges of the thumb


Partial absence of thumb

description: The absence of a phalangeal segment of a thumb.


Short phalanx of the thumb

description: Hypoplastic (short) thumb phalanx.


description: Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx.


name: Abnormality of the epiphysis of the proximal phalanx of the thumb

description: This term applies if the epiphysis of the proximal phalanx of the thumb, which is located at the proximal end of the phalanx, does not appear in concordance with gender and age dependant norms as seen on x-rays. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


name: Absent epiphysis of the proximal phalanx of the thumb

description: Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


name: Bracket epiphysis of the proximal phalanx of the thumb

description: An abnormality of the proximal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.


name: Cone-shaped epiphysis of the proximal phalanx of the thumb

description: A cone-shaped appearance of the epiphysis of the proximal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


name: Enlarged epiphysis of the proximal phalanx of the thumb

description: Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


name: Fragmentation of the epiphysis of the proximal phalanx of the thumb

description: Epiphysis of the proximal phalanx of the thumb having multiple bony fragments.


name: Irregular epiphysis of the proximal phalanx of the thumb

description: Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


name: Ivory epiphysis of the proximal phalanx of the thumb

description: Sclerosis of the epiphysis of the proximal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


name: Pseudoepiphysis of the proximal phalanx of the thumb

description: A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the proximal phalanx of the thumb.


name: Small epiphysis of the proximal phalanx of the thumb

description: Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms.


name: Stippling of the epiphysis of the proximal phalanx of the thumb

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


name: Triangular epiphysis of the proximal phalanx of the thumb

description: A triangular appearance of the epiphysis of the proximal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


name: Absent epiphysis of the distal phalanx of the thumb

description: Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb.


name: Bracket epiphysis of the distal phalanx of the thumb

description: An abnormality of the distal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.


name: Cone-shaped epiphysis of the distal phalanx of the thumb

description: A cone-shaped appearance of the epiphysis of the distal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.


name: Enlarged epiphysis of the distal phalanx of the thumb

description: Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms.


name: Fragmentation of the epiphysis of the distal phalanx of the thumb

description: Epiphysis of the distal phalanx of the thumb having multiple bony fragments.


name: Irregular epiphysis of the distal phalanx of the thumb

description: Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb.


name: Ivory epiphysis of the distal phalanx of the thumb

description: Sclerosis of the epiphysis of the distal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


name: Pseudoepiphysis of the distal phalanx of the thumb

description: A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the distal phalanx of the thumb.


name: Small epiphysis of the distal phalanx of the thumb

description: Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms.


name: Stippling of the epiphysis of the distal phalanx of the thumb

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb.


name: Triangular epiphysis of the distal phalanx of the thumb

description: A triangular appearance of the epiphysis of the distal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.


Absent epiphyses of the thumb

description: Absence of one or more epiphyses of the thumb.


Bracket epiphyses of the thumb

description: An abnormality of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.


Cone-shaped epiphysis of the thumb

description: A cone-shaped appearance of the epiphyses of the thumb, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.


Enlarged thumb epiphysis

description: Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms.


Fragmentation of thumb epiphysis

description: Epiphysis of the thumb having multiple bony fragments.


Irregular thumb epiphysis

description: Uneven radiographic opacity of the one or more epiphyses of the thumb.


Ivory epiphysis of the thumb

description: Sclerosis of one or more of the epiphyses of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


Pseudoepiphysis of the thumb

description: A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb.


Small thumb epiphysis

description: Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms.


Stippling of thumb epiphysis

description: The presence of abnormal punctate (speckled, dot-like) calcifications in one or more of the epiphyses of the thumb.


name: Contracture of the distal interphalangeal joint of the fingers

description: Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers.


Finger symphalangism

description: An abnormal union between bones or parts of bones of the fingers. The synonymous term "symphalangism of the hand" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as "Symphalangism" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as "bony" Syndactyly.


Metacarpal synostosis

description: Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx).


Carpal synostosis

description: Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).


Synostosis involving the 1st metacarpal

description: Fusion of the 1st metacarpal with another bone. In contrast to the proximal phalanges of the digits 2 to 5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


Chronic CSF lymphocytosis

description: Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter.


Increased CSF interferon alpha

description: Increased concentration of interferon alpha in the cerebrospinal fluid (CSF).


Chilblains

description: Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks.


Spinal hemangioblastoma

description: A hemangioblastoma of the spinal cord.


Abnormal epididymis morphology

description: An abnormality of the epididymis.


Papillary cystadenoma of the epididymis

description: A cystadenoma, an epithelial tumor, that originates within the head of the epididymis.


Subependymal nodules

description: Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis.


Cortical tubers

description: Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients.


Hypomelanotic macule

description: Hypomelanotic macules ("ash leaf spots") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis.


Shagreen patch

description: A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled. The word shagreen refers to a type of roughened untanned leather.


Dental enamel pits

description: The presence of small depressions in the dental enamel.


Abnormality of the subungual region

description: A lesion located beneath a fingernail or toenail.


Subungual fibromas

description: The presence of fibromata beneath finger or toenails.


Achromatic retinal patches

description: Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disk diameter in size and tending to be located in the midperiphery of the retina.


Neoplasm of striated muscle

description: A benign or malignant neoplasm (tumor) originating in striated muscle, either skeletal muscle or cardiac muscle.


Cerebral hamartoma

description: The presence of a hamartoma of the cerebrum.


Spinal neurofibroma

description: A neurofibroma (benign peripheral nerve sheath tumor) localized in the spine.


Tibial pseudarthrosis

description: Pseudarthrosis, or "false joint" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life.


Lisch nodules

description: The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris..


Abnormal antihelix morphology

description: An abnormality of the antihelix.


Hypoplasia of the antihelix

description: Developmental hypoplasia of the antihelix.


Aplasia of the parotid gland

description: Absence of the parotid gland.


Stiff shoulders

description: Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity.


Distichiasis

description: Double rows of eyelashes.


Abnormal spinal dura mater morphology

description: An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord.


Spinal arachnoid cyst

description: Presence of arachnoid cysts of the spinal canal extradurally in the epidural space.


Thick nasal septum

description: Abnormally increased thickness of the nasal septum.


Lumbosacral hirsutism

description: Abnormally increased hair growth in the lumbosacral region.


Large earlobe

description: Increased volume of the earlobe, that is, abnormally prominent ear lobules.


Aplasia of the pectoralis major muscle

description: Absence of the pectoralis major muscle.


Cleft in skull base

description: A bony defect in the skull base.


Fibrous syngnathia

description: Complete or nearly complete soft tissue fusion of the alveolar ridges.


Popliteal pterygium

description: A pterygium (or pterygia) occurring in the popliteal region (the back of the knee).


Intercrural pterygium

description: A pterygium (or pterygia) in the intercrural (groin) region.


description: Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome.


Neck pterygia

description: Pterygia affecting the neck.


Anterior clefting of vertebral bodies

description: Anterior schisis (cleft or cleavage) of vertebral bodies.


Facial wrinkling

description: Excessive wrinkling of the skin of the face.


Limb pain

description: Chronic pain in the limbs with no clear focal etiology.


Low hanging columella

description: Columella extending inferior to the level of the nasal base, when viewed from the side.


name: Aplasia/Hypoplasia of the phalanges of the hand

description: Small or missing phalangeal bones of the fingers of the hand.


Broad phalanges of the hand

description: Increased width of the phalanges of the hand.


Bullet-shaped phalanges of the hand

description: The presence of short and wide phalanges which taper distally ("bullet shaped").


Patchy sclerosis of finger phalanx

description: Uneven (irregular) increase in bone density of one or more of the phalanges of the hand.


name: Symphalangism affecting the phalanges of the hand

description: Fusion of two or more phalangeal bones of the hand.


Adactyly

description: The absence of all phalanges of all the digits of a limb and the associated soft tissues.


Absent thumb

description: Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.


Short thumb

description: Hypoplasia (congenital reduction in size) of the thumb.


3-4 toe syndactyly

description: Syndactyly with fusion of toes three and four.


Iliac horns

description: Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic.


Lester's sign

description: A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape.


Aplasia/Hypoplasia of the biceps

description: Absence or underdevelopment of the biceps muscle.


Biceps aplasia

description: Absence of the biceps muscle.


Aplasia/Hypoplasia of the triceps

description: Absence or underdevelopment of the triceps muscle.


Triceps aplasia

description: Absence of the triceps muscle.


name: Aplasia/Hypoplasia of the musculature of the thigh

description: Absence or underdevelopment involving the musculature of the thigh.


Aplasia/Hypoplasia of the quadriceps

description: Absence or underdevelopment of the quadriceps muscle.


Quadriceps aplasia

description: Absence of the quadriceps muscle.


Perianal abscess

description: The presence of an abscess located around the anus.


Hemisacrum

description: A hemisacral defect involving the sacral vertebrae S2 to S5. In hemisacrum, the first sacral vertebra is intact and there is agenesis involving only S2-S5.


Bifid sacrum

description: Presence of a bifid sacral bone.


Presacral teratoma

description: A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV).


Branchial anomaly

description: Congenital developmental defect arising from the primitive branchial apparatus.


Branchial fistula

description: A congenital fistula in the neck resulting from incomplete closure of a branchial cleft.


Euthyroid goiter

description: A goiter that is not associated with functional thyroid abnormalities.


Supernumerary spleens

description: The presence of two or more accessory spleens.


Aplasia of the phalanges of the hand

description: Absence of one or more of the phalanges of the hand.


Short phalanx of finger

description: Short (hypoplastic) phalanx of finger, affecting one or more phalanges.


Tooth agenesis

description: The absence of one or more teeth from the normal series by a failure to develop


Low-output congestive heart failure

description: A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes.


Anomaly of the upper limb diaphyses

description: A structural abnormality of a diaphysis of the arm.


name: Abnormal upper limb metaphysis morphology

description: An anomaly of one or more metaphyses of the arms.


Abnormality of the elbow

description: An anomaly of the joint that connects the upper and the lower arm.


Amelia involving the upper limbs

description: Amelia of one or both upper limbs.


Upper limb phocomelia

description: Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).


Upper limb peromelia

description: Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation.


Aplasia/hypoplasia of the extremities

description: Absence (due to failure to form) or underdevelopment of the extremities.


Lower limb undergrowth

description: Leg shortening because of underdevelopment of one or more bones of the lower extremity.


name: Aplasia involving bones of the lower limbs


Amelia involving the lower limbs

description: Amelia of one or both legs.


Lower limb phocomelia

description: Phocomelia affecting only the lower limbs.


Lower limb peromelia

description: Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation.


Forearm undergrowth

description: Forearm shortening because of underdevelopment of one or more bones of the forearm.


name: Aplasia involving bones of the upper limbs


Upper limb undergrowth

description: Arm shortening because of underdevelopment of one or more bones of the upper extremity.


name: Aplasia involving bones of the extremities


Limb undergrowth

description: Limb shortening because of underdevelopment of one or more bones of the extremities.


Peromelia

description: The distal parts of the limbs are missing leading to a stump formation.


name: Abnormal distal phalanx morphology of finger

description: Any anomaly of distal phalanx of finger.


name: Abnormal middle phalanx morphology of the hand

description: An anomaly of middle phalanx of finger.


name: Abnormal proximal phalanx morphology of the hand


name: Aplasia/Hypoplasia of the distal phalanges of the hand

description: Absence or underdevelopment of the distal phalanges.


Broad distal phalanx of finger

description: Abnormally wide (broad) distal phalanx of finger.


name: Bullet-shaped distal phalanges of the hand

description: Short and wide distal phalanges that taper distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


name: Osteolytic defects of the distal phalanges of the hand


name: Patchy sclerosis of distal phalanx of finger

description: Uneven (irregular) increase in bone density of the distal phalanges of the hand.


name: Aplasia/Hypoplasia of the middle phalanges of the hand


Broad middle phalanx of finger

description: Increased width of the middle phalanx of finger.


name: Bullet-shaped middle phalanges of the hand

description: Any of the middle phalanges with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


name: Osteolytic defects of the middle phalanges of the hand


name: Patchy sclerosis of middle phalanx of finger

description: Uneven (irregular) increase in bone density of one or more of the middle phalanges of the hand.


name: Symphalangism of middle phalanx of finger

description: Fusion of a middle phalanx of a finger with another bone.


name: Triangular shaped middle phalanges of the hand


name: Aplasia/Hypoplasia of the proximal phalanges of the hand


Broad proximal phalanges of the hand

description: Increased width of the proximal phalanges of the finger.


name: Bullet-shaped proximal phalanges of the hand

description: Short and wide proximal phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction.


name: Osteolytic defects of the proximal phalanges of the hand


name: Patchy sclerosis of proximal phalanx of finger

description: Uneven increase in bone density of the proximal phalanges of the hand.


name: Symphalangism affecting the proximal phalanges of the hand


name: Triangular shaped proximal phalanges of the hand


name: Triangular shaped distal phalanges of the hand


name: Cerebellar ataxia associated with quadrupedal gait

description: The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a 'bear-like' gait with the legs held straight).


Simplified gyral pattern

description: An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.


Broad distal phalanges of all fingers

description: Abnormally wide (broad) distal phalanx of finger of all fingers.


name: Aplasia of the distal phalanges of the hand


Short distal phalanx of finger

description: Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.


name: Duplication of the distal phalanx of hand

description: This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.


Tapered distal phalanges of finger

description: A reduction in diameter of the distal phalanx of finger towards the distal end.


Abnormality of hair pigmentation

description: An abnormality of hair pigmentation (color).


Abnormality of secondary sexual hair

description: Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair.


Localized hirsutism

description: Abnormally increased hair growth with a localized distribution.


High anterior hairline

description: Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella.


Underdeveloped supraorbital ridges

description: Flatness of the supraorbital portion of the frontal bones.


Telangiectasia of the ear

description: The presence of telangiectasia of the ear.


Thickened ears

description: Increased thickness of the external ear.


Abnormality of the crus of the helix

description: An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear.


Abnormal antitragus morphology

description: An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch.


Horizontal crus of helix

description: An abnormal horizontal axis orientation of the crus of the helix. That is, the main axis of the crus of the helix is perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly.


Underdeveloped crus of the helix

description: Developmental hypoplasia of the crus of the helix. That is, flatter and/or shorter crus helix than average.


Prominent crus of helix

description: The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix.


Crumpled ear

description: Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds.


Cleft helix

description: A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length.


Conjunctival nodule

description: Presence of nodules in the conjunctiva of the eye.


Prominent ear helix

description: Abnormally prominent ear helix.


Thin ear helix

description: Decreased thickness of the helix of the ear.


Aplasia/Hypoplasia of the earlobes

description: Absence or underdevelopment of the ear lobes.


Attached earlobe

description: Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward.


Anterior creases of earlobe

description: Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe.


Uplifted earlobe

description: An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly.


Aplasia of the middle ear ossicles

description: Absence of the middle ear ossicles, malleus, incus, and stapes.


Abnormal temporal bone morphology

description: Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple.


Abnormal tragus morphology

description: An abnormality of the tragus.


Aplasia/Hypoplasia of the tragus

description: Aplasia or developmental hypoplasia of the tragus.


Cyclopia

description: Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose.


Corneal asymmetry

description: The presence of a size difference between the left and right cornea.


Persistent pupillary membrane

description: The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil.


Vascular remnant arising from the disk

description: Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth.


Aplasia/Hypoplasia involving the nose

description: Underdevelopment or absence of the nose or parts thereof.


Thick nasal alae

description: Increase in bulk of the ala nasi.


Abnormal columella morphology

description: A structural abnormality of the columella.


Asymmetry of the nares

description: Asymmetry or size difference between the left and right nostril.


Enlarged naris

description: Increased aperture of the nostril.


Single naris

description: The presence of only a single nostril.


Narrow naris

description: Slender, slit-like aperture of the nostril.


Aplasia/Hypoplasia of the nasal septum

description: Absence or underdevelopment of the nasal septum.


Narrow nasal septum

description: Abnormally narrow nasal septum.


Facial hirsutism

description: Excess facial hair.


Sunken cheeks

description: Lack or loss of the soft tissues between the zygomata and mandible.


Mandibular aplasia

description: Absence of the mandible.


Asymmetry of the mandible

description: Lack of symmetry between the left and right mandible.


Asymmetry of the mouth

description: The presence of an asymmetric mouth.


Duplication of thumb phalanx

description: Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


Complete duplication of thumb phalanx

description: A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.


Partial duplication of thumb phalanx

description: A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.


Duplication of phalanx of 2nd finger

description: This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.


name: Duplication of the proximal phalanx of the 2nd finger

description: Partial or complete duplication of the second proximal phalanx of hand.


name: Duplication of the distal phalanx of the 2nd finger

description: Partial or complete duplication of the distal phalanx of index finger.


name: Duplication of the middle phalanx of the 2nd finger

description: Partial or complete duplication of the middle phalanx of index finger.


name: Complete duplication of the distal phalanx of the 2nd finger

description: Complete duplication of the distal phalanx of index finger.


name: Partial duplication of the distal phalanx of the 2nd finger

description: Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx.


name: Complete duplication of the middle phalanx of the 2nd finger

description: Complete duplication of the middle phalanx of index finger.


name: Partial duplication of the middle phalanx of the 2nd finger

description: Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx.


name: Complete duplication of the proximal phalanx of the 2nd finger

description: Complete duplication of the second proximal phalanx of hand.


name: Partial duplication of the proximal phalanx of the 2nd finger

description: Partial duplication of the second proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.


name: Partial duplication of the phalanges of the 2nd finger

description: A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 2nd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.


name: Complete duplication of the phalanges of the 2nd finger

description: A complete duplication affecting one or more of the phalanges of the 2nd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.


Duplication of phalanx of 3rd finger

description: This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.


name: Complete duplication of the phalanges of the 3rd finger

description: A complete duplication affecting one or more of the phalanges of the 3rd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.


name: Partial duplication of the phalanges of the 3rd finger

description: A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.


name: Duplication of the distal phalanx of the 3rd finger

description: Partial or complete duplication of the distal phalanx of middle finger.


name: Duplication of the middle phalanx of the 3rd finger

description: Partial or complete duplication of the middle phalanx of middle finger.


name: Duplication of the proximal phalanx of the 3rd finger

description: Partial or complete duplication of the third proximal phalanx of hand.


name: Complete duplication of the distal phalanx of the 3rd finger

description: Complete duplication of the distal phalanx of middle finger


name: Complete duplication of the middle phalanx of the 3rd finger

description: Complete duplication of the middle phalanx of middle finger.


name: Complete duplication of the proximal phalanx of the 3rd finger

description: Complete duplication of the third proximal phalanx of hand.


name: Partial duplication of the distal phalanx of the 3rd finger

description: Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx.


name: Partial duplication of the middle phalanx of the 3rd finger

description: Partial duplication of the middle phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx.


name: Partial duplication of the proximal phalanx of the 3rd finger

description: Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.


Duplication of phalanx of 4th finger

description: This term applies if one or more of the phalanges of the 4th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.


name: Complete duplication of the phalanges of the 4th finger

description: A complete duplication affecting one or more of the phalanges of the 4th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.


name: Partial duplication of the phalanges of the 4th finger

description: A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 4th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.


name: Duplication of the distal phalanx of the 4th finger

description: Partial or complete duplication of the distal phalanx of ring finger.


name: Duplication of the middle phalanx of the 4th finger

description: Partial or complete duplication of the middle phalanx of ring finger.


name: Duplication of the proximal phalanx of the 4th finger

description: Partial or complete duplication of the fourth proximal phalanx of hand.


name: Complete duplication of the distal phalanx of the 4th finger

description: Complete duplication of the distal phalanx of ring finger.


name: Complete duplication of the middle phalanx of the 4th finger

description: Complete duplication of the middle phalanx of ring finger.


name: Complete duplication of the proximal phalanx of the 4th finger

description: Complete duplication of the fourth proximal phalanx of hand.


name: Partial duplication of the distal phalanx of the 4th finger

description: Partial duplication of the distal phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx.


name: Partial duplication of the middle phalanx of the 4th finger

description: Partial duplication of the middle phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx.


name: Partial duplication of the proximal phalanx of the 4th finger

description: Partial duplication of the fourth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.


Duplication of phalanx of 5th finger

description: This term applies if one or more of the phalanges of the 5th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.


name: Complete duplication of the phalanges of the 5th finger

description: A complete duplication affecting one or more of the phalanges of the 5th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.


name: Partial duplication of the phalanges of the 5th finger

description: A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 5th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.


name: Duplication of the distal phalanx of the 5th finger

description: Partial or complete duplication of the distal phalanx of little finger.


name: Duplication of the middle phalanx of the 5th finger

description: Partial or complete duplication of the fifth middle phalanx of hand.


name: Duplication of the proximal phalanx of the 5th finger

description: Partial or complete duplication of the fifth proximal phalanx of hand.


name: Complete duplication of the distal phalanx of the 5th finger

description: Complete duplication of the distal phalanx of little finger.


name: Complete duplication of the middle phalanx of the 5th finger

description: Complete duplication of the fifth middle phalanx of hand.


name: Complete duplication of the proximal phalanx of the 5th finger

description: Complete duplication of the fifth proximal phalanx of hand.


name: Partial duplication of the distal phalanx of the 5th finger

description: Partial duplication of the distal phalanx of little finger, seen on x-rays as a broad and/or bifid phalanx.


name: Partial duplication of the middle phalanx of the 5th finger

description: Partial duplication of the fifth middle phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.


name: Partial duplication of the proximal phalanx of the 5th finger

description: Partial or complete duplication of the fifth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.


Duplication of phalanx of hand

description: This term applies if one or more of the phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.


Complete duplication of phalanx of hand

description: A complete duplication affecting one or more of the phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.


name: Partial duplication of the phalanx of hand

description: A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.


name: Complete duplication of the proximal phalanges of the hand

description: A complete duplication affecting one or more of the proximal phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.


name: Complete duplication of the distal phalanges of the hand

description: A complete duplication affecting one or more of the distal phalanges of the hand.


name: Complete duplication of the middle phalanges of the hand

description: A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism.


name: Partial duplication of the proximal phalanges of the hand

description: A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the proximal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.


name: Partial duplication of the distal phalanges of the hand

description: A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the distal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.


name: Partial duplication of the middle phalanges of the hand

description: A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the middle phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.


name: Duplication of the proximal phalanx of hand

description: This term applies if one or more of the proximal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.


name: Duplication of the middle phalanx of hand

description: This term applies if one or more of the middle phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.


Abnormal 1st metacarpal morphology

description: A structural anomaly of the first metacarpal.


Abnormal 2nd metacarpal morphology

description: Any abnormality of the second metacarpal bone.


Abnormal 3rd metacarpal morphology

description: Any abnormality of the third metacarpal bone.


Abnormal 4th metacarpal morphology

description: Any abnormality of the fourth metacarpal bone.


Abnormal 5th metacarpal morphology

description: Any abnormality of the fifth metacarpal bone.


name: Abnormality of the epiphysis of the 1st metacarpal

description: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). The epiphysis of the first metacarpal is localized at the proximal end (as seen in the proximal phalanges of the other digits), whereas the epiphyses of the other metacarpal bones are located at the distal end. This term applies if the epiphysis of the 1st metacarpal is in any way abnormal, referring to age and gender depending norms, as seen on x-rays.


Bracket epiphysis of the 1st metacarpal

description: An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter 'C' and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate.


name: Cone-shaped epiphysis of the 1st metacarpal

description: A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance.


name: Enlarged epiphysis of the 1st metacarpal

description: Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms.


name: Fragmentation of the epiphysis of the 1st metacarpal

description: Epiphysis of the 1st metacarpal having multiple bony fragments.


name: Irregular epiphysis of the 1st metacarpal

description: Uneven radiographic opacity of the epiphysis of the 1st metacarpal.


Ivory epiphysis of the 1st metacarpal

description: The epiphysis of the 1st metacarpal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs.


Pseudoepiphysis of the 1st metacarpal

description: The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal.


Small epiphysis of the 1st metacarpal

description: Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms.


name: Epiphyseal stippling of the first metacarpal

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the first metacarpal bone.


name: Triangular epiphysis of the 1st metacarpal


name: Aplasia/Hypoplasia of the 1st metacarpal

description: Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).


Broad 1st metacarpal

description: Increased width of the 1st metacarpal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


Bullet-shaped 1st metacarpal

description: The presence of short and wide 1st metacarpal which tapers distally ("bullet shaped").


Curved 1st metacarpal

description: A deviation from the normal straight shape of the first metacarpal.


name: Osteolytic defects of the 1st metacarpal

description: Dissolution or degeneration of bone tissue of the 1st metacarpal.


Patchy sclerosis of the 1st metacarpal

description: Uneven increase in bone density within the 1st metacarpal.


Triangular shaped 1st metacarpal

description: This term applies to a triangular shaped 1st metacarpal.


Short 1st metacarpal

description: A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand.


Aplasia of the 1st metacarpal

description: Absent first metacarpal (long bone) of the hand.


name: Aplasia/Hypoplasia of the 2nd metacarpal

description: Aplasia or Hypoplasia affecting the 2nd metacarpal.


Aplasia of the 2nd metacarpal

description: Absence of the second long bone of the hand.


Short 2nd metacarpal

description: Short second metacarpal bone because of developmental hypoplasia.


name: Aplasia/Hypoplasia of the 3rd metacarpal

description: Aplasia or Hypoplasia affecting the 3rd metacarpal.


Aplasia of the 3rd metacarpal

description: Absence of the third long bone of the hand.


Short 3rd metacarpal

description: Short third metacarpal bone.


name: Aplasia/Hypoplasia of the 4th metacarpal

description: Aplasia or Hypoplasia affecting the 4th metacarpal.


Aplasia of the 4th metacarpal

description: Absence of the fourth long bone of the hand.


Short 4th metacarpal

description: Short fourth metacarpal bone.


name: Aplasia/Hypoplasia of the 5th metacarpal

description: Aplasia or Hypoplasia affecting the 5th metacarpal.


Aplasia of the 5th metacarpal

description: Absence of the fifth long bone of the hand.


Short 5th metacarpal

description: Short fifth metacarpal bone.


Aplasia of metacarpal bones

description: Developmental defect associated with absence of one or more metacarpal bones.


Short metacarpal

description: Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.


Deviation of the hallux

description: Displacement of the big toe from its normal position.


name: Abnormal morphology of the proximal phalanx of the hallux

description: An abnormal shape or form of the proximal phalanx of the big toe.


name: Abnormality of the distal phalanx of the hallux


name: Abnormality of the first metatarsal bone

description: An anomaly of the first metatarsal bone.


Broad hallux

description: Visible increase in width of the hallux without an increase in the dorso-ventral dimension.


name: Abnormality of the epiphyses of the hallux


name: Aplasia/Hypoplasia of the phalanges of the hallux


Broad hallux phalanx

description: An increase in width in one or more phalanges of the big toe.


Bullet-shaped hallux phalanx

description: An abnormal morphology of one or more phalanges of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Curved hallux phalanx

description: A deviation from the normal straight form of one or more phalanges of the big toe.


name: Osteolytic defects of the phalanges of the hallux


Patchy sclerosis of hallux phalanx

description: Patchy (irregular) increase in bone density of one or more phalanges of the big toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.


name: Symphalangism affecting the phalanges of the hallux


name: Triangular shaped phalanges of the hallux


Duplication of phalanx of hallux

description: Partial or complete duplication of one or more phalanx of big toe.


name: Aplasia/hypoplasia of the 1st metatarsal

description: Absence or underdevelopment of the first metatarsal bone.


Broad first metatarsal

description: Increased side-to-side width of the first metatarsal bone.


Bullet-shaped 1st metatarsal

description: An abnormal morphology of the firstmetatarsal bone, which is short and wide and tapers distally, and lacks the normal diaphyseal constriction.


Curved 1st metatarsal

description: A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone.


name: Osteolytic defects of the 1st metatarsal

description: Dissolution or degeneration of bone tissue of the first metatarsal.


Duplication of the 1st metatarsal

description: A developmental defect consisting in the duplication of the first metatarsal bone.


name: Aplasia/Hypoplasia of the distal phalanx of the hallux


Broad distal phalanx of the hallux

description: An increase in width of the distal phalanx of the big toe.


name: Bullet-shaped distal phalanx of the hallux

description: An abnormal morphology of the distal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Curved distal phalanx of the hallux

description: A deviation from the normal straight form of the distal phalanx of the big toe.


name: Osteolytic defects of the distal phalanx of the hallux


name: Patchy sclerosis of the distal phalanx of the hallux


name: Symphalangism affecting the distal phalanx of the hallux


name: Triangular shaped distal phalanx of the hallux


name: Duplication of the distal phalanx of the hallux


name: Aplasia/Hypoplasia of the proximal phalanx of the hallux


Broad proximal phalanx of the hallux

description: Increased width of proximal phalanx of big toe.


name: Bullet-shaped proximal phalanx of the hallux

description: An abnormal morphology of the proximal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Curved proximal phalanx of the hallux

description: A deviation from the normal straight form of the proximal phalanx of the big toe.


name: Osteolytic defects of the proximal phalanx of the hallux


name: Patchy sclerosis of the proximal phalanx of the hallux


name: Symphalangism affecting the proximal phalanx of the hallux


name: Triangular shaped proximal phalanx of the hallux


name: Duplication of the proximal phalanx of the hallux

description: Partial or complete duplication of the proximal phalanx of big toe.


name: Complete duplication of the proximal phalanx of the hallux

description: Complete duplication of the proximal phalanx of big toe.


name: Partial duplication of the proximal phalanx of the hallux

description: Partial duplication of the proximal phalanx of big toe.


name: Complete duplication of the distal phalanx of the hallux


name: Partial duplication of the distal phalanx of the hallux


name: Complete duplication of the 1st metatarsal

description: A developmental defect consisting in the complete duplication of the first metatarsal bone.


name: Partial duplication of the 1st metatarsal

description: A developmental defect consisting in the duplication of part of the first metatarsal bone.


Complete duplication of hallux phalanx

description: Complete duplication of one or more phalanx of big toe.


name: Partial duplication of the phalanges of the hallux


name: Aplasia of the distal phalanx of the hallux


Short distal phalanx of hallux

description: Underdevelopment (hypoplasia) of the distal phalanx of big toe.


Absent first metatarsal

description: A developmental defect characterized by the absence of the first metatarsal bone.


Short first metatarsal

description: Short first metatarsal bone.


name: Aplasia of the proximal phalanx of the hallux


Short proximal phalanx of hallux

description: Underdevelopment (hypoplasia) of the proximal phalanx of big toe.


Short hallux

description: Underdevelopment (hypoplasia) of the big toe.


Short phalanx of hallux

description: Underdevelopment (hypoplasia) of a phalanx of big toe.


Mesoaxial foot polydactyly

description: The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly.


Absent hallux epiphysis

description: Failure to form (agenesis) of one or more epiphyses of the big toe.


name: Fragmentation of the epiphyses of the hallux


name: Stippling of the epiphyses of the hallux

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the hallux.


name: Abnormality of the epiphysis of the distal phalanx of the hallux


name: Abnormality of the epiphysis of the 1st metatarsal

description: In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the epiphysis of the first metatarsal bone.


name: Abnormality of the epiphysis of the proximal phalanx of the hallux

description: In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities affecting the proximal phalanx of the hallux.


name: Absent epiphysis of the proximal phalanx of the hallux

description: Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux.


name: Bracket epiphysis of the proximal phalanx of the hallux

description: The epiphysis of the proximal phalanx of the hallux surrounds the diaphysis, having a bracket-like form.


name: Cone-shaped epiphysis of the proximal phalanx of the hallux


name: Enlarged epiphysis of the proximal phalanx of the hallux


name: Fragmentation of the epiphysis of the proximal phalanx of the hallux


name: Irregular epiphysis of the proximal phalanx of the hallux


name: Ivory epiphysis of the proximal phalanx of the hallux


name: Pseudoepiphysis of the proximal phalanx of the hallux

description: A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the big toe.


name: Small epiphysis of the proximal phalanx of the hallux


name: Stippling of the epiphysis of the proximal phalanx of the hallux

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the hallux.


name: Triangular epiphysis of the proximal phalanx of the hallux


name: Absent epiphysis of the distal phalanx of the hallux

description: Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux.


name: Bracket epiphysis of the distal phalanx of the hallux

description: The epiphysis of the distal phalanx of the hallux surrounds the diaphysis, having a bracket-like form.


name: Cone-shaped epiphysis of the distal phalanx of the hallux


name: Enlarged epiphysis of the distal phalanx of the hallux


name: Fragmentation of the epiphysis of the distal phalanx of the hallux


name: Irregular epiphysis of the distal phalanx of the hallux


name: Ivory epiphysis of the distal phalanx of the hallux


name: Pseudoepiphysis of the distal phalanx of the hallux


name: Small epiphysis of the distal phalanx of the hallux


name: Stippling of the epiphysis of the distal phalanx of the hallux

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the hallux.


name: Triangular epiphysis of the distal phalanx of the hallux


Absent epiphysis of the 1st metatarsal

description: Failure to form (agenesis) of the epiphysis of the 1st metatarsal.


Bracket epiphysis of the 1st metatarsal

description: The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form.


name: Cone-shaped epiphysis of the 1st metatarsal

description: A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot.


name: Enlarged epiphysis of the 1st metatarsal


name: Fragmentation of the epiphysis of the 1st metatarsal


name: Irregular epiphysis of the 1st metatarsal


Ivory epiphysis of the 1st metatarsal

description: The epiphysis of the 1st metatarsal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs.


name: Stippling of the epiphysis of the 1st metatarsal


name: Triangular epiphysis of the 1st metatarsal


Absent epiphyses of the toes

description: Absence of the epiphyses of the phalanges of the toes.


name: Fragmentation of the epiphyses of the toes


Epiphyseal stippling of toe phalanges

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the toes.


name: Aplasia/Hypoplasia of the phalanges of the toes


Broad phalanx of the toes

description: Increased width of phalanx of one or more toes.


Bullet-shaped toe phalanx

description: An abnormal morphology of one or more phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Curved toe phalanx

description: A deviation from the normal straight form of one or more toe phalanges.


name: Osteolytic defects of the phalanges of the toes


Patchy sclerosis of toe phalanx

description: Uneven (irregular) increase in bone density of one or more of the phalanges of the foot.


name: Symphalangism affecting the phalanges of the toes


Duplication of phalanx of toe

description: Partial/complete duplication of one or more phalanx of toe.


name: Abnormality of the distal phalanges of the toes


name: Abnormality of the middle phalanges of the toes


Abnormality of toe proximal phalanx

description: A morphological anomaly of one or more proximal phalanges of one or more toes.


name: Aplasia/Hypoplasia of the distal phalanges of the toes

description: Absence or underdevelopment of the distal phalanges of the toes.


Broad distal phalanx of the toes

description: Increased width of the distal phalanx of toe of one or more toes.


Bullet-shaped distal toe phalanx

description: An abnormal morphology of one or more distal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Curved distal toe phalanx

description: A deviation from the normal straight form of one or more distal toe phalanges.


name: Osteolytic defects of the distal phalanges of the toes


Patchy sclerosis of distal toe phalanx

description: Patchy (irregular) increase in bone density of one or more of the distal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays.


name: Symphalangism affecting the distal phalanges of the toes


name: Triangular shaped distal phalanges of the toes


Duplication of distal phalanx of toe

description: A partial or complete duplication of one or more distal phalanx of toe.


name: Aplasia/Hypoplasia of the middle phalanges of the toes


Bullet-shaped middle toe phalanx

description: An abnormal morphology of one or more middle phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Curved middle toe phalanx

description: A deviation from the normal straight form of one or more middle toe phalanges.


name: Osteolytic defects of the middle phalanges of the toes


Patchy sclerosis of middle toe phalanx

description: Patchy (irregular) increase in bone density of one or more of the middle phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays.


name: Symphalangism affecting the middle phalanges of the toes


name: Triangular shaped middle phalanges of the toes


Duplication of middle phalanx of toe

description: Partial or complete duplication of a middle phalanx of toe.


name: Aplasia/hypoplasia of proximal toe phalanx

description: Absence (agenesis) or underdevelopment of the proximal phalanx of the toe.


Broad proximal phalanx of toe

description: An increase in width of one ore more proximal toe phalanges.


Bullet-shaped proximal toe phalanx

description: An abnormal morphology of one or more of the proximal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Curved proximal toe phalanx

description: A deviation from the normal straight shape of a proximal phalanx of one or more toes.


name: Osteolytic defect of the proximal toe phalanx

description: Dissolution or degeneration of bone tissue of the proximal toe phalanx.


name: Patchy sclerosis of proximal toe phalanx

description: Patchy (irregular) increase in bone density of one or more of the proximal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays.


name: Symphalangism affecting the proximal phalanges of the toes


name: Triangular shaped proximal phalanges of the toes


Duplication of proximal phalanx of toe

description: Partial/complete duplication of a proximal phalanx of toe.


Flexion contracture of the hallux

description: One or more bent (flexed) joints of the first (big) toe that cannot be straightened actively or passively.


name: Contracture of the tarsometatarsal joint of the hallux

description: Chronic loss of joint motion in the tarsometatarsal joint of the hallux due to structural changes in non-bony tissue. The tarsometatarsal joints of the feet are also called Lisfranc's joints.


name: Contracture of the interphalangeal joint of the hallux

description: The interphalangeal joint of the big toe cannot be straightened actively or passively.


name: Contractures of the metatarsophalangeal joint of the hallux

description: The joint between the first metatarsal and the proximal phalanx of the first (big) toe cannot be straightened actively or passively.


Structural foot deformity

description: A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies.


name: Abnormality of the epiphysis of the 2nd metacarpal

description: Any abnormality of the epiphysis of the second metacarpal bone.


name: Abnormality of the epiphysis of the 3rd metacarpal

description: Any abnormality of the epiphysis of the third metacarpal bone.


Pseudoepiphysis of the 3rd metacarpal

description: The normal epiphysis of the third metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.


name: Abnormality of the epiphysis of the 4th metacarpal

description: Any abnormality of the epiphysis of the 4th metacarpal bone.


Pseudoepiphysis of the 4th metacarpal

description: The normal epiphysis of the fourth metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.


name: Abnormality of the epiphysis of the 5th metacarpal

description: Any abnormality of the epiphysis of the fifth metacarpal bone.


Pseudoepiphysis of the 5th metacarpal

description: The normal epiphysis of the fifth metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.


name: Absent epiphyses of the phalanges of the hand

description: Absence of one or more epiphyses of the phalanges of the fingers.


name: Bracket epiphyses of the phalanges of the hand

description: Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.


name: Cone-shaped epiphyses of the phalanges of the hand

description: A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.


name: Enlarged epiphyses of the phalanges of the hand

description: Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms.


name: Fragmentation of the epiphyses of the phalanges of the hand

description: Fragmented appearance of the epiphyses of the phalanges of the fingers.


name: Irregular epiphyses of the phalanges of the hand

description: Irregular radiographic opacity of the epiphyses of the phalanges of the fingers.


name: Ivory epiphyses of the phalanges of the hand

description: Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


name: Pseudoepiphyses of the phalanges of the hand

description: A secondary ossification center in the phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.


name: Small epiphyses of the phalanges of the hand

description: Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms.


name: Epiphyseal stippling of finger phalanges

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers.


name: Triangular epiphyses of the phalanges of the hand

description: A triangular appearance of the epiphyses of the phalanges of the fingers of the hand.


name: Aplasia of the middle phalanx of the hand

description: Absence of one or more middle phalanx of a finger.


Short proximal phalanx of finger

description: Congenital hypoplasia of one or more proximal phalanx of finger.


name: Aplasia of the proximal phalanges of the hand


name: Abnormality of the epiphyses of the distal phalanx of finger

description: Any anomaly of distal epiphysis of phalanx of finger.


name: Abnormality of the epiphyses of the middle phalanges of the hand


name: Abnormality of the epiphyses of the proximal phalanges of the hand


name: Absent epiphyses of the distal phalanges of the hand


name: Bracket epiphyses of the distal phalanges of the hand

description: An abnormality of the distal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.


name: Cone-shaped epiphyses of the distal phalanges of the hand


name: Enlarged epiphyses of the distal phalanges of the hand


name: Fragmentation of the epiphyses of the distal phalanges of the hand


name: Irregular epiphyses of the distal phalanges of the hand


name: Ivory epiphyses of the distal phalanges of the hand

description: Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.


name: Pseudoepiphyses of the distal phalanges of the hand

description: A secondary ossification center in the distal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.


name: Small epiphyses of the distal phalanges of the hand


name: Stippling of the epiphyses of the distal phalanges of the hand


name: Triangular epiphyses of the distal phalanges of the hand


name: Absent epiphyses of the middle phalanges of the hand


name: Bracket epiphyses of the middle phalanges of the hand

description: An abnormality of the middle phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.


name: Cone-shaped epiphyses of the middle phalanges of the hand


name: Enlarged epiphyses of the middle phalanges of the hand


name: Fragmentation of the epiphyses of the middle phalanges of the hand

description: Fragmented appearance of the epiphyses of the middle phalanges of the hand.


name: Irregular epiphyses of the middle phalanges of the hand


name: Ivory epiphyses of the middle phalanges of the hand

description: Epiphyses of the middle phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.


name: Pseudoepiphyses of the middle phalanges of the hand

description: A secondary ossification center in the middle phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.


name: Small epiphyses of the middle phalanges of the hand


name: Stippling of the epiphyses of the middle phalanges of the hand


name: Triangular epiphyses of the middle phalanges of the hand


name: Absent epiphyses of the proximal phalanges of the hand


name: Bracket epiphyses of the proximal phalanges of the hand

description: An abnormality of the proximal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.


name: Cone-shaped epiphyses of the proximal phalanges of the hand


name: Enlarged epiphyses of the proximal phalanges of the hand


name: Fragmentation of the epiphyses of the proximal phalanges of the hand


name: Irregular epiphyses of the proximal phalanges of the hand


name: Ivory epiphyses of the proximal phalanges of the hand

description: Epiphyses of the proximal phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.


name: Pseudoepiphyses of the proximal phalanges of the hand

description: A secondary ossification center in the proximal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.


name: Small epiphyses of the proximal phalanges of the hand


name: Stippling of the epiphyses of the proximal phalanges of the hand


name: Triangular epiphyses of the proximal phalanges of the hand


Cleft lower lip

description: A gap in the lower lip.


Thin lower lip vermilion

description: Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective).


Intra-oral hyperpigmentation

description: Increased pigmentation, either focal or generalized, of the mucosa of the mouth.


Oral synechia

description: Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges.


Abnormality of the submandibular glands

description: Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles.


Abnormality of the sublingual glands

description: Any abnormality of the sublingual glands, which are the salivary glands that are located beneath the floor of the mouth anterior to the submandibular glands.


Cleft maxillary alveolar ridge

description: A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine.


Short hard palate

description: Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective).


Prominent palatine ridges

description: Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge.


Absent uvula

description: Lack of the uvula.


Aplasia/Hypoplasia of the uvula

description: Underdevelopment or absence of the uvula.


Palate fistula

description: A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate.


Aplasia/Hypoplasia of the tongue

description: Absence or underdevelopment of the tongue.


Bifid tongue

description: Tongue with a median apical indentation or fork.


Abnormal dentin morphology

description: Any abnormality of dentin.


Abnormally low-pitched voice

description: An abnormal decrease in the pitch of the voice.


Spinal dysraphism

description: A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.


Abnormal spinal meningeal morphology

description: Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord.


Spinal meningeal diverticulum

description: An outpouching of the spinal meninges.


Short thorax

description: Reduced inferior to superior extent of the thorax.


Stridor

description: Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.


Asternia

description: The congenital absence of the sternum.


Chylothorax

description: Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity.


Aplasia/Hypoplasia of the breasts

description: Absence or underdevelopment of the breasts.


Premature thelarche

description: Premature development of the breasts.


Aplasia/Hypoplasia of the diaphragm

description: Absence or underdevelopment of the diaphragm.


Scapular aplasia

description: Absence of the scapulae.


name: Aplasia/Hypoplasia of the abdominal wall musculature

description: Absence or underdevelopment of the abdominal musculature.


Abnormal second toe morphology

description: An anomaly of the second toe.


Abnormal third toe morphology

description: An anomaly of the third toe.


Abnormal fourth toe morphology

description: An anomaly of the fourth toe.


Abnormal fifth toe morphology

description: An anomaly of the little toe.


name: Abnormality of the epiphyses of the 2nd toe


name: Abnormal morphology of phalanx of the 2nd toe

description: An anomaly of a phalanx of second toe.


Flexion contracture of the 2nd toe

description: One or more bent (flexed) joints of the second toe that cannot be straightened actively or passively.


name: Abnormality of the epiphyses of the 3rd toe


name: Abnormality of the phalanges of the 3rd toe


Flexion contracture of 3rd toe

description: One or more bent (flexed) joints of the third toe that cannot be straightened actively or passively.


name: Abnormality of the epiphyses of the 4th toe


name: Abnormality of the phalanges of the 4th toe


Flexion contracture of the 4th toe

description: One or more bent (flexed) joints of the fourth toe that cannot be straightened actively or passively.


name: Abnormality of the epiphyses of the 5th toe


name: Abnormality of the phalanges of the 5th toe


Flexion contracture of the 5th toe

description: One or more bent (flexed) joints of the fifth toe that cannot be straightened actively or passively.


name: Aplasia/Hypoplasia of the phalanges of the 2nd toe


Bullet-shaped 2nd toe phalanx

description: An abnormal morphology of one or more phalanges of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Curved 2nd toe phalanx

description: A deviation from the normal straight form of one or more phalanges of the second toe.


name: Osteolytic defects of the phalanges of the 2nd toe


Patchy sclerosis of 2nd toe phalanx

description: Patchy (irregular) increase in bone density of one or more of the phalanges of the second toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.


Second toe symphalangism

description: Fusion of the interphalangeal joints of the 2nd toe.


name: Triangular shaped phalanges of the 2nd toe


name: Duplication of the phalanges of the 2nd toe

description: Partial or complete duplication of a phalanx of second toe.


name: Abnormality of the distal phalanx of the 2nd toe


name: Abnormality of the middle phalanx of the 2nd toe


name: Abnormal morphology of the proximal phalanx of the 2nd toe


name: Aplasia/Hypoplasia of the phalanges of the 3rd toe


Bullet-shaped 3rd toe phalanx

description: An abnormal morphology of one or more phalanges of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Curved 3rd toe phalanx

description: A deviation from the normal straight form of one or more phalanges of the third toe.


name: Osteolytic defects of the phalanges of the 3rd toe


Patchy sclerosis of 3rd toe phalanx

description: Patchy (irregular) increase in bone density of one or more of the phalanges of the third toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.


name: Symphalangism affecting the phalanges of the 3rd toe


name: Triangular shaped phalanges of the 3rd toe


Duplication of phalanx of the 3rd toe

description: Partial or complete duplication of phalanx of third toe.


name: Abnormality of the distal phalanx of the 3rd toe


name: Abnormality of the middle phalanx of the 3rd toe


name: Abnormal morphology of the proximal phalanx of the 3rd toe

description: An anomaly of the proximal phalanx of third toe.


name: Aplasia/Hypoplasia of the phalanges of the 4th toe


Bullet-shaped 4th toe phalanx

description: An abnormal morphology of one or more phalanges of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Curved 4th toe phalanx

description: A deviation from the normal straight form of one or more phalanges of the fourth toe.


name: Osteolytic defects of the phalanges of the 4th toe


Patchy sclerosis of 4th toe phalanx

description: Patchy (irregular) increase in bone density of one or more of the phalanges of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.


name: Symphalangism affecting the phalanges of the 4th toe


name: Triangular shaped phalanges of the 4th toe


Duplication of phalanx of the 4th toe

description: Partial or complete duplication of phalanx of fourth toe.


name: Abnormality of the distal phalanx of the 4th toe


name: Abnormality of the middle phalanx of the 4th toe


name: Abnormal morphology of the proximal phalanx of the 4th toe


name: Aplasia/Hypoplasia of the phalanges of the 5th toe


Bullet-shaped 5th toe phalanx

description: An abnormal morphology of one or more phalanges of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Curved 5th toe phalanx

description: A deviation from the normal straight form of one or more phalanges of the fifth toe.


name: Osteolytic defects of the phalanges of the 5th toe


Patchy sclerosis of 5th toe phalanx

description: Patchy (irregular) increase in bone density of one or more of the phalanges of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.


name: Symphalangism affecting the phalanges of the 5th toe


name: Triangular shaped phalanges of the 5th toe


name: Duplication of the phalanges of the 5th toe

description: Partial or complete duplication of one or more phalanx of little toe.


name: Abnormality of the distal phalanx of the 5th toe


name: Abnormality of the middle phalanx of the 5th toe


name: Abnormal morphology of the proximal phalanx of the 5th toe


name: Aplasia/hypoplasia of the proximal phalanx of the 2nd toe

description: Absence (agenesis) or underdevelopment of the proximal phalanx of the 2nd toe.


name: Bullet-shaped proximal phalanx of the 2nd toe

description: An abnormal morphology of the proximal phalanx of the 2nd toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Curved proximal phalanx of the 2nd toe

description: A deviation from the normal straight form of the proximal phalanx of the 2nd toe.


name: Osteolytic defects of the proximal phalanx of the 2nd toe


name: Patchy sclerosis of the proximal phalanx of the 2nd toe


name: Symphalangism affecting the proximal phalanx of the 2nd toe


name: Triangular shaped proximal phalanx of the 2nd toe


name: Duplication of the proximal phalanx of the 2nd toe

description: Partial or complete duplication of proximal phalanx of second toe.


name: Aplasia/Hypoplasia of the middle phalanx of the 2nd toe


name: Bullet-shaped middle phalanx of the 2nd toe

description: An abnormal morphology of the middle phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Curved middle phalanx of the 2nd toe

description: A deviation from the normal straight form of the middle phalanx of the 2nd toe.


name: Osteolytic defects of the middle phalanx of the 2nd toe


name: Patchy sclerosis of the middle phalanx of the 2nd toe


name: Symphalangism affecting the middle phalanx of the 2nd toe


name: Triangular shaped middle phalanx of the 2nd toe


name: Duplication of the middle phalanx of the 2nd toe

description: Partial or complete duplication of middle phalanx of second toe.


name: Aplasia/Hypoplasia of the distal phalanx of the 2nd toe


name: Bullet-shaped distal phalanx of the 2nd toe

description: An abnormal morphology of the distal phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Curved distal phalanx of the 2nd toe

description: A deviation from the normal straight form of the distal phalanx of the 2nd toe.


name: Osteolytic defects of the distal phalanx of the 2nd toe


name: Patchy sclerosis of the distal phalanx of the 2nd toe


name: Symphalangism affecting the distal phalanx of the 2nd toe


name: Triangular shaped distal phalanx of the 2nd toe


name: Duplication of the distal phalanx of the 2nd toe

description: Partial or complete duplication of the distal phalanx of second toe.


name: Complete duplication of the proximal phalanx of the 2nd toe

description: Complete duplication of proximal phalanx of second toe.


name: Partial duplication of the proximal phalanx of the 2nd toe

description: Partial duplication of proximal phalanx of second toe.


name: Complete duplication of the distal phalanx of the 2nd toe

description: Complete duplication of the distal phalanx of second toe.


name: Partial duplication of the distal phalanx of the 2nd toe

description: Partial duplication of the distal phalanx of second toe.


name: Complete duplication of the middle phalanx of the 2nd toe

description: Complete duplication of middle phalanx of second toe.


name: Partial duplication of the middle phalanx of the 2nd toe

description: Partial duplication of middle phalanx of second toe.


name: Partial duplication of phalanx of the 2nd toe

description: Partial duplication of a phalanx of second toe.


name: Complete duplication of the phalanges of the 2nd toe

description: Complete duplication of a phalanx of second toe.


Short phalanx of the 2nd toe

description: Reduced length of one or more phalanx of second toe as a result of developmental hypoplasia.


Absent distal phalanx of the 2nd toe

description: Absence of distal phalanx of the second toe as a result of developmental aplasia.


Short distal phalanx of the 2nd toe

description: Reduced length of the distal phalanx of the second toe as a result of developmental hypoplasia.


name: Aplasia of the middle phalanx of the 2nd toe


Short middle phalanx of the 2nd toe

description: Reduced length of the middle phalanx of second toe as a result of developmental hypoplasia.


name: Aplasia of the proximal phalanx of the 2nd toe


Short proximal phalanx of the 2nd toe

description: Reduced length of the proximal phalanx of second toe as a result of developmental hypoplasia.


Abnormal ventricular septum morphology

description: A structural abnormality of the interventricular septum.


Ectopic accesory toe-like appendage

description: In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the fibular side of the foot, next top the little toe), preaxial (on the tibial side of the foot, next to the big toe) or mesoaxial (somewhere central, between big and little toe), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200).


Ectopic accessory finger-like appendage

description: In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the ulnar side of the hand, next to the little finger), preaxial (on the radial side of the hand, next to the thumb) or mesoaxial (somewhere central, between thumb and little finger), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200).


Bifid femur

description: A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side.


Esophageal stenosis

description: An abnormal narrowing of the lumen of the esophagus.


Aplasia/Hypoplasia of the spleen

description: Absence or underdevelopment of the spleen.


Ectopia of the spleen

description: An abnormal (non-anatomic) location of the spleen.


Pelvic bone asymmetry

description: Pelvic asymmetry refers to asymmetric positioning of landmarks on the two sides of the pelvis and may have a structural or functional etiology.


Acetabular spurs

description: The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum.


Steep acetabular roof

description: An exaggeration of the normal arched form of the acetabular roof such that it takes on a steep appearance.


name: Abnormal greater sciatic notch morphology

description: An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.


Abnormality of the female genitalia

description: Abnormality of the female genital system.


Abnormality of the male genitalia

description: Abnormality of the male genital system.


Aplasia/Hypoplasia of the ovary

description: Aplasia or developmental hypoplasia of the ovary.


Aplasia of the ovary

description: Aplasia, that is failure to develop, of the ovary.


Streak ovary

description: A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells.


Aplasia/Hypoplasia of the testes

description: Absence or underdevelopment of the testes.


Absent testis

description: Testis not palpable in the scrotum or inguinal canal.


Supernumerary testes

description: The presence of more than two testes.


Oligosacchariduria

description: Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins.


name: Abnormal circulating porphyrin concentration

description: An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes.