Chiari malformation type II

Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.


Elevated right atrial pressure

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An abnormal increase in magnitude of the pressure in the right atrium.


tongue neoplasm

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A neoplasm (disease) that involves the tongue.


Transient decreased circulating total IgG

A temporary reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.


Opportunistic fungal infection

An infection that is caused by a fungus that would generally not be able to cause an infection in a host with a normal immune system. Such fungi take advantage of the opportunity, so to speak, that is provided by a weakened immune system.


Fetal nuchal edema

Nuchal edema is considered present in a fetus at gestational week 14 or more if in the midsagittal plane of the neck, there is subcutaneous edema that produces a characteristic tremor on ballotment of the fetal head. This constitutes the severe end of the spectrum of increased nuchal fold thickness, which is defined as soft-tissue thickening of 6 mm or more, seen in the suboccipitobregmatic view of the fetal head. Nuchal edema may be confined to the neck or it may be generalized, as part of hydrops fetalis.


Midline nasal groove

An abnormal groove on the midline of the nose that may extend to the nasal tip.


Pili canaliculi

A characteristic triangular, kidney- or heat-shaped diameter of hair shafts with typical longitudinal canalicular deformation as observable by scanning electron microscopy.


Cutaneous sclerotic plaque

A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter that is characterized by hardening (sclerosis) of the affected skin area (related to collagen thickening).


Monomorphic vesicular eruption

A type of vesicular eruption in which the vesicles are at same stages.


urticaria, aquagenic

Aquagenic urticaria is a rare condition in which urticaria (hives) develop rapidly after the skin comes in contact with water, regardless of its temperature. It most commonly affects women and symptoms often start around the onset of puberty. Some patients report itching too. It is a form of physical urticaria . The exact underlying cause of aquagenic urticaria is currently unknown. Due to the rarity of the condition, there is very limited data regarding the effectiveness of individual treatments; however, various medications and therapies have been used with variable success.


Hepatic agenesis

Absence of the liver owing to a failure of the liver to develop.


Abnormal metabolism

An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products.


Elevated RV/TLC ratio

An increase in the ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and (3) body plethysmography. An elevated RV/TLC can be interpreted as a sign of air trapping and hyperinflation.


facial nerve disorder

A disease involving the facial nerve.


Abnormal tarsal ossification

An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.


Hypoplasia of the olfactory bulb

Underdevelopment of the olfactory bulb.


Phobia

Extreme, irrational, and persistent fears of certain objects, situations, activities, or persons can impede functioning in day-to-day life.


Abnormal thrombosis

Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).


Increased circulating heparan sulfate level

An abnormal increase in the concentration of heparan sulfate in the blood.


Functional abnormality of the inner ear

An abnormality of the function of the inner ear.


Linear IgG deposits along the epidermal basement membrane zone

Presence of IgG antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.


Absent uvula

Lack of the uvula.


Osteolytic defects of the middle phalanx of the 5th toe


Anti-GlyR antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Glycine receptor (GlyR).


Esophageal duplication

A developmental disorder in which there is a duplication of a portion of the muscle and submucosa of the esophagus without epithelial duplication.


Absent right sided atrioventricular connection

A defect where there is no connection between the right atrium and right ventricle.


Small cervical vertebral bodies

Reduced size of cervical vertebrae.


Atrial septal hypertrophy

An abnormal increase in the thickness of the atrial septum.


Irregular epiphyses of the middle phalanges of the hand


Proximal/middle symphalangism of 3rd finger

Fusion of the proximal and middle phalanges of the 3rd finger.


Hepatic hemophagocytosis

Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages observed in the liver.


Positive lupus band test

Deposits of immunoglobulins and complement components along the dermoepidermal junction.


Impaired neutrophil killing of staphylococci

A reduction in the ability of neutrophils to kill the gram-positive bacteria, staphylococcus, which is commonly known as staph.


Substantia nigra dopaminergic neuron loss

Degeneration and loss of neruons in the substantia nigra of the brain.


Inflexible adherence to routines

A need to strictly adhere to repetitive routines or patterns of behavior which are created by the environment. One becomes upset or distressed when their routines are disrupted or altered.


Fixated interests

Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests).


Narrow incisura width

Width of the incisura from the anterior to posterior border less than that observed in the average population.


Basilar artery calcification

An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the basilar artery.


Abnormal ovarian physiology

Any anomaly of ovarian function.


neuroblastic tumor

A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells.


Acrocyanosis

Bluish discoloration of the skin of the hands or feet.


myoclonic-astatic epilepsy

Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children.


Abnormality of frontal process of maxilla

An abnormality of a frontal process of the maxilla bone.


Ivory epiphysis of the middle phalanx of the 5th finger

Sclerosis of the epiphysis of the middle phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


Hypothalamic gonadotropin-releasing hormone deficiency


Mild albuminuria

The presence of mildly increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio (ACR) less than 30 mg/gm (less than 3.4 mg/mmol).


Interlobular vein intima/media multilamellation

Myointimal hyperplasia of the inner and middle layer of the interlobular veins of the kidney, arranged in multiple concentric layers.


Severe sensorineural hearing impairment

A severe form of sensorineural hearing impairment.


Peripheral arterial calcification

An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall.


Impaired epinephrine-induced platelet aggregation

Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine.


Pulmonic valve myxoma

A benign tumor of connective tissue containing mucous or gelatinous material (myxoma) localized in the pumonic valve.


Abnormal morphology of the proximal phalanx of the 2nd toe


Palpable purpura

A type of purpura in which the lesions are raised (and can therefore be appreciated upon palpation).


aplasia cutis congenita

Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies.


Unicuspid aortic valve

The presence of an aortic valve with one instead of the normal three cusps (flaps).


Vocal cord paresis

Decreased strength of the vocal folds.


Rounded middle phalanx of finger

An abnormally round shape of the middle phalanx of the finger.


Bilateral intracerebral calcifications

Deposition of calcium salts on both sides of the brain.


Y-shaped metatarsals

Y-shaped metatarsals are the result of a partial fusion of two metatarsal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metatarsals may be seen in combination with polydactyly.


Aplasia cutis congenita of midline scalp vertex


Abnormal thyroid-stimulating hormone level

Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.


vaginal neoplasm

A benign or malignant neoplasm affecting the vagina. Representative examples of benign neoplasms include squamous papilloma and melanocytic nevus. Representative examples of malignant neoplasms include carcinoma, melanoma, and sarcoma.


Tibial bowing

A bending or abnormal curvature of the tibia.


High posterior hairline

Hair on the neck extends less inferiorly than usual.


Bilateral single transverse palmar creases

The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands.


Episodic fatigue

Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation.


atresia of urethra

Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development.


Subarterial ventricular septal defect

A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum.


paranasal sinus neoplasm

A benign or malignant neoplasm that affects the paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.


Asternia

The congenital absence of the sternum.


Animal dander allergy

Hypersensitivity in form of an adverse immune reaction against animal dander.


Increased circulating complement factor H related protein 1 concentration

Elevated level of circulating complement factor H related protein 1 concentration in the blood circulation.


Elevated circulating 3-hydroxybutyric acid concentration

Elevation of the 3-hydroxybutyric acid concentration in the blood above the normal range.


chylous ascites

Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain.


Abnormal odontoid process morphology

Abnormal structure of the odontoid process, which is a part of the C2 or axis vertebra and forms pivot of the structures forming the craniovertebral junction. The odontoid process is also known as the dens of the axis.


Focal aware cognitive seizure with illusion

A focal cognitive seizure with illusion characterized by retained awareness throughout the seizure.


Midclavicular aplasia

Developmental defect resulting in congenital absence of the middle portion of the clavicle.


Focal impaired awareness cognitive seizure

A focal cognitive seizure in which awareness is partially or fully impaired at some point during the seizure.


Ivory epiphysis of the proximal phalanx of the 3rd toe


Peripheral hypermyelination

Increased amount of peripheral myelination.


Sparse anterior scalp hair

Decreased number of head hairs per unit area on the anterior region of the scalp.


Complete tracheal ring

Continuous or nearly continuous configuration of the cartilaginous tracheal ring.


Herpetiform vesicles

Multiple vesicles distributed in multiple distinct groups consisting of multiple adjacent vesicles.


Cognitive fatigue

A failure to sustain attention that requires self-motivation to optimize performance.


Complete duplication of the middle phalanx of the 2nd toe

Complete duplication of middle phalanx of second toe.


Ivory epiphysis of the proximal phalanx of the 4th toe


Fetal abdominal cyst

Fetal abdominal cysts are usually detected during the second trimester anomaly scan or discovered incidentally at later gestations. However, a definitive diagnosis is often not made until postnatal life. The most common etiologies of fetal abdominal cysts are: ovarian, gastrointestinal cystic duplication, liver and choledochal, meconium pseudocysts, mesenteric and adrenal. Following identification of a cyst, careful morphological assessment allows the prediction of their natural history and importantly, the likelihood of surgical intervention being required postnatally.


Precocious puberty in males

The onset of puberty before the age of 9 years in boys.


Anti-pituitary antibody positivity

Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function.


Long ulna

Increased length of the ulna.


diffuse nonepidermolytic palmoplantar keratoderma

A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis.


Curved 4th toe phalanx

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


Sclerosis of the proximal phalanx of the 5th finger


EEG with temporal focal spike waves

EEG with focal sharp transient waves in the temporal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.


Abnormal circulating hyaluronic acid concentration

A deviation from the normal concentration of hyaluronic acid in the blood.


Focal sensory seizure with cephalic sensation

A seizure characterized by a sensation in the head such as light-headedness or headache as its first clinical manifestation.


Anti-thyroglobulin antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin.


Parasite allergy

Hypersensitivity in form of an adverse immune reaction against parasites.


Polygonal renal calices

An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance).


Cutaneous anergy

Inability to react to a delayed hypersensitivity skin test.


Impaired cortisol response to insulin stimulation test

Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT).


Onychogryposis

Nail that appears thick when viewed on end.


Hyperdynamic left ventricular ejection fraction

An abnoramlly increased ejection fraction of the left ventricle, usually defined as a left ventricular ejection fraction greater than 70 percent.


Fractured metacarpus skeleton

A partial or complete breakage of the metacarpus skeleton.


Widow's peak

Frontal hairline with bilateral arcs to a low point in the midline of the forehead.


Bilateral coxa valga

The presence of bilateral coxa valga.


Abnormal HDL2a concentration

Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2a particle is defined as an HDL particle with a size of 8.80-9.69 nm.


Dust particle inclusion in alveolar macrophages

Accumulation of inhaled, nondigestable particles in macrophages.


Bilateral radial aplasia

Missing radius bone on both sides associated with congenital failure of development.


Abnormal blood potassium concentration

An abnormal concentration of potassium.


Triangular shaped distal phalanx of the 2nd toe


Long term memory impairment

A deficit in the ability to retrieve information from long-term memory, which can be defined as a seemingly unlimited capacity to store memories can last years and relate to the performance of actions or skills (i.e., procedural memories, knowing how) and memories of facts, rules, concepts, and events (i.e., declarative memories, knowing that).


Triangular shaped distal phalanges of the hand


Neutrophilic infiltration of the skin

A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin).


telangiectasia macularis eruptiva perstans


Foot osteomyelitis

An infection of bone of the foot.


Calcification of the small brain vessels

Deposition of calcium salts within small blood vessels of the brain.


Enamel pearls

Small nodules of enamel on the root of a tooth.


Aplasia/Hypoplasia of the mandible

Absence or underdevelopment of the mandible.


Curved proximal phalanx of the 4th finger


Stroke-like episode

No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours.


Abnormal ischium morphology

An anomaly of the ischium, which forms the lower and back part of the hip bone.


Abnormal morphology of the nasal alae

An abnormality of the Ala of nose.


inner ear neoplasm

A rare neoplasm that arises from the inner ear. Representative examples include lipoma and acoustic schwannoma.


Increased inflammatory response

A abnormal increase in the inflammatory response to injury or infection.


Abnormal consumption behavior

Recurrent abnormal consumption of food, liquids, or objects that could have negative consequences for the individual.


Absent sternal ossification

Lack of formation of mineralized bony tissue of the sternum.


Coronary ostial atresia

Absence of the normal opening of a coronary ostium. There are normally two coronary ostia, which are site of origin of the main left or right main coronary artery and are located in the ascending aorta just above the aortic valve.


Anterior pituitary agenesis

Absence of the anterior pituitary gland resulting from a developmental defect.


Weakness of muscles of respiration

Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles.


Paresis of extensor muscles of the big toe


Decreased urinary 3-methylhistidine

Decreased concentration of 3-methylhistidine in the urine.


Splayed toes

Divergence of digits along the anteroposterior axis (in the plane of the sole).


isolated congenital adermatoglyphia

Isolated congenital adermatoglyphia is a rare, genetic develomental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.


Osteolytic defects of the phalanges of the 3rd toe


Anti-aquaporin 4 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against aquaporin-4.


Complete right sided absence of pericardium

No pericardium is present on the righthand side of the heart. It is a congenital absence of pericardium rather than the result of a pericardectomy.


Abnormal circulating protein concentration

An abnormal level of a circulating protein in the blood.


Absent palatine bone ossification

Lack of formation of the palatine bone.


Arteria lusoria

Usually, three large arteries arise from the arch of the aorta: the brachiocephalic trunk (divided into the right common carotid artery and the right subclavian artery), the left common carotid artery, and the left subclavian artery. However, when aberrant right subclavian artery variant is present, the brachiocephalic trunk is absent and four large arteries arise from the arch of the aorta: the right common carotid artery, the left common carotid artery, the left subclavian artery, and the final one with the most distal left sided origin, the right subclavian artery, also called the arteria lusoria.


Olivopontocerebellar hypoplasia

Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus.


Abnormal cricoid cartilage morphology

Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx.


Cone-shaped epiphyses of the 2nd finger

A cone-shaped appearance of the epiphyses of the 2nd finger 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.


Advanced pneumatization of cranial sinuses

A degree of pneumatization that is increased compared to age-related norms.


Myoclonic absence seizure

Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017.


Experiential epileptic aura

Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context.


Coronary artery fistula

A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel.


Prenatal double bubble sign

Sonographic detection of a double bubble sign in the upper abdomen is strongly indicative of duodenal obstruction. One bubble represents fetal stomach, and the other is attributed to a dilated proximal part of the duodenum; continuity between both bubbles is required for the sign.


Segmental hypoplasia of liver

Anatomically the liver is divided into right and left lobes based on the attachment of its peritoneal ligaments. This term refers to a developmental anomaly characterzied by the underdevelopment of one of the lobes of the liver. This is a rare and usually asymptomatic anomaly that can be detected incidentally on cross sectional imaging with computed tomography or magnetic resonance imaging.


Hydroureter

The distention of the ureter with urine.


Hepatic focal nodular hyperplasia

Hepatic focal nodular hyperplasia (FNH) is a benign hepatic tumor. FNH develops within hepatic parenchymal tissue that is otherwise histologically normal. Macroscopically, the tumor is characterized by the presence of depressed, grayish-white scar, which is generally (but not always) located at the center of the lesion, with fibrous septa radiating outward, toward the periphery of the tumor. This stellate scar is found in only 50% of all FNH nodules, but its presence is regarded as pathognomonic. The lesion itself is usually lighter in color than the tissue that surrounds it, and it sometimes has a yellowish hue. FNH nodules are generally not capsulated; their margins are well defined, and they are sometimes lobulated.


Cortical radial artery intima/media arteriosclerosis

Thickening of the intima of the cortical radial artery (also known as the interlobular artery) of the kidney characterized by fibrosis and/or duplication of the elastic lamina.


Dystopic os odontoideum

Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process. With orthotopic os odontoideum, the ossicle moves with the anterior arch of the atlas, while the dystopic type consists of an ossicle near the basion, or one that is fused with the clivus


Palmar hyperkeratosis

Abnormal thickening of the skin localized to the palm of the hand.


Polymorphic and polytopic ventricular extrasystoles


Fatigable weakness of chewing muscles

A type of weakness of the muscles involved in chewing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.


Ivory epiphysis of the middle phalanx of the 2nd toe


Persistent stapedial artery

Persistence of the stapedial artery, which normally regresses during embryonic life.


Elevated circulating o-phosphoethanolamine concentration

An increased concentration of o-phosphoethanolamine in the blood circulation.


Migrating focal seizure

A migrating focal seizure is a seizure that involves different body parts, usually without overlap, in a consecutive manner so that the offset of a seizure in one part coincides with its onset in another, even shifting multiple times between the sides of the body. They can be associated with autonomic manifestations.


breast fibroadenoma

A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported.


Anti-contactin-associated protein 1 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-contactin-associated protein 1.


Short foot

A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).


medulloblastoma

A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity.


congenital pulmonary airway malformation

An abnormality in lung development that is characterized by a multicystic mass resulting from an adenomatous overgrowth of the terminal bronchioles with a consequent reduction of pulmonary alveoli. This anomaly is classified into three types by the cyst size.


Milky appearance of bronchoalveolar lavage fluid

Return of lavage fluid with a milky apperance due to the accumulation of a mixture of pulmonary surfactant, which is a lipoprotein complex, in the alveolar space.


Abnormal circulating collagen degradation product concentration

Abnormal concentration in the blood circulation of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease.


Translamellar mucoid extracellular matrix accumulation

A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix alters the arrangement of the lamellar units to varying degrees.


Left ventricular noncompaction cardiomyopathy

Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates.


Superior pubic ramus hypoplasia

Underdevelopment of the upper branch of the pubis bone (inferior pubic ramus).


Aplasia/Hypoplasia of the thumb

Hypoplastic/small or absent thumb.


fibrous dysplasia

A genetic, non-inheritable disorder caused by osteoblastic differentiation defects that result in the replacement of bone marrow and trabecular bone by fibrous stroma and immature bone. It usually affects a single bone and less frequently multiple bones. Skull, femur, tibia, and humerus are the most frequently affected bones. It manifests with pain, deformities, and fractures.


Prominent nasal bridge

Anterior positioning of the nasal root in comparison to the usual positioning for age.


Patchy sclerosis of toe phalanx

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


Bullet-shaped 2nd toe phalanx

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.


Abnormal proportion of central memory CD4-positive, alpha-beta T cells

An abnormal proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.


Abnormal DLCO

An abnormal amount of oxygen passes into the blood from the lungs and/or an abnormal amount of carbon dioxide passes from the blood into the lungs.


Curved middle phalanx of the 3rd finger

Curved appearance of the middle phalanx of the 3rd (middle) finger.


Reflex asystolic syncope

A loss of consciousness followed by stiffening and brief clonic movements affecting some or all limbs, often misinterpreted as an epileptic seizure.


Abnormality of body mass index

Anomaly in the weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of obesity and underweight compared to averages.


Marginal umbilical cord insertion

Insertion of the umbilical cord within 2 cm from the placental edge.


Hypoamylasemia

Decreased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.


Tendon xanthomatosis

The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows).


Yellow subcutaneous tissue covered by thin, scaly skin


Cerebellar ataxia associated with quadrupedal gait

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).


Decreased comfort with casual physical contact

An abnormal reduction in the interest or frequency of physical contact with others as compared with the usual behavior of an individual. For instance, an individual may choose to stand farther apart from others in conversations or decline physical contact when offered during social interactions.


Pseudoepiphysis of the distal phalanx of the thumb

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


Hypermobility of interphalangeal joints

The ability of the interphalangeal joints to move beyond their normal range of motion.


Abnormal midbrain morphology

An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct.


Patellar hypoplasia

Underdevelopment of the patella.


Elevated circulating membrane cofactor protein concentration

Concentration of membrane cofactor protein in the blood circulation above the upper limit of normal.


Abnormal level of platelet-activating factor


Factor X activation deficiency

Reduced ability to transform factor X into its activated form factor Xa.


Absent toenail

Congenital absence of the toenail.


Amyelia

Congenital absence of the spinal cord.


Abnormality of premolar

An abnormality of premolar tooth.


Fluctuating hepatomegaly

Intermittently increased size of the liver.


Abnormality of the hypothalamus-pituitary axis

Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit.


Toenail dysplasia

An abnormality of the development of the toenails.


Absent epiphysis of the distal phalanx of the 4th toe


3-methylglutaconic aciduria

A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine.


Increased proportion of memory T cells

An abnormally elevated proportion of memory T cells compared to the total number of T cells in the blood.


Neonatal electro-clinical tonic seizure

Neonatal electro-clinical tonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a sustained increase in muscle tone, usually focal, that can be unilateral or bilateral, and lasting a few seconds to minutes.


Cystathioninemia

An increased concentration of cystathionine in the blood.


Short phalanx of the 5th toe

Developmental hypoplasia of one or more phalanx of little toe.


Hypomature dental enamel

A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color.


Inappropriately normal thyroid-stimulating hormone level

A normal or elevated serum thyroid-stimulating hormone (TSH) level in the face of an elevation in circulating FT4 and/or FT3.


familial isolated hypoparathyroidism due to agenesis of parathyroid gland

Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis).


Thyrotoxicosis with toxic multinodular goiter


Increased CSF N-acetylaspartic acid concentration

An abnormally increased concentration of N-acetylaspartic acid in the cerebrospinal fluid (CSF).


Aorto-right ventricular tunnel

The presence of an extracardiac channel that connects the ascending aorta above the sinotubular junction to the cavity of the right ventricle.


Abnormal circulating heparan sulfate level

An abnormal level of heparan sulfate in the blood.


Cone-shaped epiphyses of phalanges 2 to 5


Anti-glutamic acid decarboxylase antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase.


Femoral retroversion

An abnormal backward rotation of the hip relative to the knee such that the hips are externally rotated with the foot pointed outward instead of straight ahead (out-toeing).


Abnormal rib cage morphology

A morphological anomaly of the rib cage.


Megaloblastic erythroid hyperplasia

A laboratory test result indicating an abnormally high quantity of abnormal immature red blood cells with megaloblastic features.


Curved 2nd toe phalanx

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


Thyroid hyperplasia

Hyperplasia of the thyroid gland.


neoplasm of testis

A neoplasm (disease) that involves the testis.


Proprioceptive-induced seizure

A seizure precipitated by movement or a change in posture.


Increased skull ossification

An increase in the magnitude or amount of ossification of the skull.


Knee flexion contracture

A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.


Anti-salivary protein antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against salivary protein.


Increased KCO

Increased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index).


Triangular epiphysis of the proximal phalanx of the 5th finger

A triangular appearance of the epiphysis of the proximal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.


Pineal gland calcification

Accumulation of calcium salts in the pineal gland.


posterior pituitary gland neoplasm

A low-grade neoplasm that arises from the neurohypophysis. It includes the granular cell tumor of the neurohypophysis and pituicytoma.


2-5 toe syndactyly

Syndactyly with fusion of toes two to five.


Carnosinuria

An increased concentration of carnosine in the urine.


Hypertension associated with pheochromocytoma

A type of hypertension associated with pheochromocytoma.


Saccular abdominal aortic aneurysm

An eccentric abnormal localized widening (dilatation) of the abdominal aorta that involves only a portion of the circumference of the vessel wall.


Abnormality of the middle phalanx of the 5th finger


Abnormal perceptual state

Temporary alteration of the awareness of reality or self-perception.


Nasogastric tube feeding

The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food.


Aplasia/Hypoplasia of the middle phalanx of the 4th finger


Triangular epiphysis of the proximal phalanx of the 4th finger

A triangular appearance of the epiphysis of the proximal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.


Anti-ganglioside antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react to gangliosides.


pseudobulbar palsy

A condition affecting cranial nerves IX-XII resulting from upper motor neuron damage arising from a variety of causes.


Defective B cell differentiation

Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity.


Absent microvilli on the surface of peripheral blood lymphocytes

Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes.


spondyloepimetaphyseal dysplasia

An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis.


Progressive distal muscle weakness

Progressively reduced strength of the distal musculature.


Anti-bicaudal D2 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against bicaudal D2.


Self-injurious behavior

Self-aggression.


Reduced antral follicle count

A count of antral follicles that is lower than normal for age.


Focal impaired awareness clonic seizure

A type of focal clonic seizure during which awareness is partially or fully impaired at some point in the seizure.


Abnormal speech rhythm

Speech with abnormal rhythm or pattern


Cone-shaped epiphysis of the thumb

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.


Wide space between 4th and 5th toe

A widely spaced gap between the fourth toe and the fifth (pinky) toe.


Hypoganglionosis

Sparse and small myenteric ganglia


Aplasia/Hypoplasia of the tragus

Aplasia or developmental hypoplasia of the tragus.


Mesangiolysis

Partial or complete dissolution of the mesangial matrix, identified by reduced staining on a periodic acid-Schiff (PAS) or silver stain.


Reduced maximal expiratory pressure

A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration.


Encysted hydrocele of the cord

A type of hydrocele testis in which both the proximal and distal portions of processus vaginalis get obliterated while the central portion remains patent and fluid accumulates within it.


Eruptive xanthomas

Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur.


Cardiac total anomalous pulmonary venous connection

Type 2 total anomalous pulmonary venous connection.


Aplasia/Hypoplasia of the quadriceps

Absence or underdevelopment of the quadriceps muscle.


Aplasia/Hypoplasia involving the metacarpal bones

Aplasia or Hypoplasia affecting the metacarpal bones.


Hyperextensibility of the finger joints

The ability of the finger joints to move beyond their normal range of motion.


Fractured proximal phalanx of pedal digit 1

A partial or complete breakage of the proximal phalanx of pedal digit 1.


Anti-class II HLA antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class II human leukocyte antigen (HLA). Class I HLA corresponds to MHC class II (DP, DM, DO, DQ, and DR).


Abnormal male germ cell morphology

A structural anomaly of a male reproductive cell.


Claw hand deformity

An abnormality of the hand characterized by metacarpophalangeal (MCP) hyperextension and proximal interphalangeal (PIP) and distal interphalangeal (DIP) flexion. The position of the affected hand is said to resemble a claw.


Triangular epiphyses of the 3rd finger

A triangular appearance of the epiphyses of the 3rd finger of the hand.


Altman type III sacrococcygeal teratoma

A type of sacrococcygeal teratoma that is predominantly intrapelvic with a small external, buttock mass.


Persistent asymmetrical tonic neck reflex

Persistence beyond the normal age (roughly the first half of the first year of life) of the asymmetric tonic neck reflex (ATNR), which is an easily elicited primitive reflex in the immediate newborn period. The ATNR refers to the phenomenon whereby when the face of an infant is turned to one side, the ipsilateral arm and leg extend and the contralateral arm and leg flex. This posture has been compared to a typical posture of fencers.


mitochondrial complex II deficiency, nuclear type 1

Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes. In many cases the underlying gene mutations cannot be identified. Complex II deficiency is inherited in an autosomal recessive fashion. Complex II deficiency gene mutation carriers may be at an increased risk for certain cancers.


Pituitary blastoma

Pituitary blastoma is a distinctive anterior hypophyseal tumor of infants


Flared metaphysis

The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.


Anterior open-bite malocclusion

Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion.


Atherosclerotic lesion

A lesion associated with atherosclerosis, a multifactorial and multipart progressive disease manifested by the focal development within the arterial wall of lesions, that ranges from teh development of a fatty streak, plaque progression, and plaque disruption. Atherosclerotic lesions demonstrate consistent morphological characteristics, which indicate that each type may stabilize temporarily or permanently and that progression to the next type may require an additional stimulus.


Proximal hyperreflexia

Hyperactive stretch reflexes of muscles that move proximal joints (elbow, knee).


Generalized seborrheic dermatitis

Seborrheic dermatitis that is not localized to any one particular region.


Aplasia of the 4th finger

Absent 4th finger.


Increased proportion of CD8-positive, alpha-beta TEMRA T cells

An increased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative.


Polyotia

The presence of an extra auricle on one or both sides of the head.


Increased serum lactate

Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).


Skin pit

A small, skin-lined tract that leads from the surface to deep within the tissues.


Palmoplantar hypohidrosis

Decreased sweating on the palms and soles.


Abnormal endocrine physiology

Any anomaly of the function of the endocrine system.


Abnormal cardiomyocyte morphology

Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue.


Nevus flammeus of the forehead

Naevus flammeus localised in the skin of the forehead.


lipomyelomeningocele

Lipomyelomeningocele is a rare neural tube closure defect characterized by a subcutaneous lipoma that extends through a defect in the lumbodorsal fascia, vertebral neural arch, and dura. This painless lesion can occur anywhere along the spinal canal but usually is found in the sacral or lumbar region. If left untreated it can cause tethered cord syndrome.


Convex nasal ridge

Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.


Abnormal calvaria morphology

Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain.


Unguarded tricuspid valve

A form of agenesis of the tricuspid valve in which (although the normal orifice between the right atrium and right ventricle exists) there is no tricuspid valvular tissue.


Enlarged brainstem

Abnormal increase in size of the brainstem.


Sclerosis of the middle phalanx of the 5th finger


antecubital pterygium syndrome

Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric.


Curvilinear subcortical heterotopia

Large subcortical heterotopia of variable morphology wiht streaks and swirls. These always connect to the overlying cortex in at least one, but usually in multiple, locations. Spaces with the signal intensity of CSF are usually seen within the heterotopia.


Biliary hyperplasia

Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia.


Mild short stature

A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.


Abnormal stomach morphology

An abnormality of the stomach.


chordoma

Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton.


Hyperfibrinogenemia

Increased concentration of fibrinogen in the blood.


Abnormal circulating sulfur amino acid concentration

Any deviation from the normal concentration of a sulfur amino acid in the blood circulation.


Focal aware sensory seizure with cephalic sensation

A seizure characterized by a sensation in the head such as light-headedness or headache.


Abnormality of the middle phalanx of the 5th toe


Duplication of the distal phalanx of hand

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.


Four-vessel umbilical cord

Four-vessel umbilical cord containing two arteries and two veins.


Abnormal glial cell morphology

An abnormality of the glia cell.


Coronal craniosynostosis

Premature closure of the coronal suture of skull.


Balanced double aortic arch

A type of double aortic arch in which the two branches are of equal size. In most cases of double aortic arch, the right aortic arch is larger and located higher than the left aortic arch.


Duodenal gastric metaplasia

Foci of gastric-type mucus-secreting cells interspersed between duodenal enterocytes. These foci of gastric epithelial cells contain Periodic acid-Schiff (PAS)-positive neutral mucin and lack a brush border.


Abnormal platelet lysosome secretion

Abnormal release of lysosome contents from platelets.


Depressed nasal tip

Decreased distance from the nasal tip to the nasal base.


Atrioventricular valve regurgitation

Regurgitation of a heart valve that controls blood flow from a an atrium to a ventricle, including mitral, tricuspid, or, rarely, single atrioventicular valve.


Localized pulmonary hemorrhage

Circumscribed pulmonary hemorrhage originating from a single bleeding site in the lungs. This can be due to infections, tumorigenesis, foreign bodies, or vascular abnormalities. Patient often feel the site of bleeding, contrast CT scan or angiography may localize the bleeder.


Altman type I sacrococcygeal teratoma

A type of sacrococcygeal teratoma that is predominantly external and projects from the sacrococcygeal region and presents with distortion of the buttocks.


lethal infantile mitochondrial myopathy

Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.


Mixed total anomalous pulmonary venous connection

Type 4 total anomalous pulmonary venous connection.


Sclerosis of skull base

Increased bone density of the skull base without significant changes in bony contour.


Areflexia of upper limbs

Inability to elicit tendon reflexes in the upper limbs.


Bloodstream infectious agent

The presence of an infectious agent in the blood circulation.


Abnormal fetal skeletal morphology

An anomalous structural finding of the fetal skeleton. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other terms from the skeletal hierarchy can also be used to describe fetal phenotypes.


Malrotation of colon

An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis.


Ectopic pancreatic tissue

The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut.


Broad philtrum

Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum.


Abnormal subpleural morphology

Any structural anomaly located between the pleura and the chest wall.


Hypoplastic right atrium

Underdeveloped, small right heart atrium.


Rounded atelectasis

Rounded atelectasis is rounded collapsed lung associated with invaginated fibrotic pleura and thickened and fibrotic interlobular septa. Most frequently, it is the consequence of an asbestos-induced exudative pleural effusion with resultant pleural scarring, but it may occur with any cause of pleural fibrosis. On chest radiographs, rounded atelectasis appears as a mass abutting a pleural surface, usually in the posterior part of a lower lobe. Distorted vessels have a curvilinear disposition as they converge on the mass (the comet tail sign). The degree of lobar retraction depends on the volume of atelectatic lung. It is almost invariably associated with other signs of pleural fibrosis (eg, blunting of costophrenic angle). CT is more sensitive for the detection and display of the characteristic features of rounded atelectasis. An additional sign is homogeneous uptake of contrast medium in the atelectatic lung.


Neck hypertonia

Increased passive stiffness or tightness of the neck musculature.


Intrahepatic biliary atresia

Atresia in the intrahepatic bile duct.


Anti-Complement factor H antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against complement factor H.


High, narrow palate

The presence of a high and narrow palate.


Progeroid facial appearance

A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance.


Broad femoral neck

An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).


dysgammaglobulinemia

An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins.


Increased level of gamma-aminobutyric acid in urine

Elevated concentration of gamma-aminobutyric acid in the urine.


Abnormal bronchoalveolar fluid protein level

Any deviation from the normal concentration of protein in the bronchoalveolar fluid.


Elevated coagulation factor V activity

Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex.


Thin lower lip vermilion

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).


Delayed ossification of the scaphoid

Formation of bone tissue of scaphoid is less than expected for age.


Decreased thalamic volume

A reduction in the quantity of space occupied by the thalamus.


Absent middle phalanx of 3rd finger

Absence of the middle phalanx of the middle (3rd) finger.


cobblestone lissencephaly

Cobblestone lissencephaly is a rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent.


Bilateral talipes equinovarus

Bilateral clubfoot deformity.


Abnormal granulocyte count

Any deviation from the normal cell count per volume of granulocytes in the blood circulation.


Delayed menarche

First period after the age of 15 years.


Polyclonal elevation of IgM

A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis.


Abnormal male reproductive system physiology

An abnormal functionality of the male genital system.


Brittle scalp hair

Fragile, easily breakable scalp hair.


monilethrix

Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis.


Inappropriate laughter

Laughing that may be excessive and/or inappropriate in context (e.g., laughing at a funeral while others are crying).


Distal widening of metacarpals

Abnormal increase in width of the distal region of the metacarpal bones.


Perisylvian predominant thick cortex pachygyria

Pachygyria with cortical thickness greater than 10 mm and a perisylvian predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Perisylvian predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.


Elevated circulating rT3/T3 ratio

An abnormally increased ratio of the concentrations of reverse T3 to T3 in the blood circulation.


Decreased circulating androgen concentration

A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.


acoustic neuroma

A type of benign brain tumor that begins in the Schwann cells, which produce the myelin that protects the acoustic nerve - the nerve of hearing.


Congenital hypertrophy of left ventricle


Increased circulating 18-hydroxycortisone level

An abnormally elevated concentration of 18-Hydroxycorticosterone level in the blood circulation.


Primary vesicoureteral reflux

Vesicoureteral reflux due to abnormalities in ureterovesical junction, e.g. ectopic insertion of the ureter or short intravesical tunnel at the ureterovesical junction.


Sclerosis of hand bones with transverse striations


Abnormal ventricular filling

An abnormality of filling of a ventricle with blood during diastole.


Hippocampal microinfarct

An infarct located in the structure of the cerebrum involved with memory storage and spatial navigation that can only be observed microscopically.


Anti-Gerbich phenotype 1 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ge-1.


Triangular shaped middle phalanx of the 5th finger

Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Neonatal electro-clinical motor seizure

Neonatal electro-clinical motor seizure is a type of neonatal electro-clinical seizure with predominant motor features.


Supraventricular tachycardia with a concealed accessory pathway on the septum


Triangular shaped proximal phalanges of the hand


Abnormal renal vascular morphology

Anomalous structure of a blood vessel in the kidney.


Torus palatinus

A bony protrusion present on the midline of the hard palate.


Imperforate atrioventricular valve

An atrioventricular valve that has failed to open (atretic).


Pulmonary situs ambiguus with bilateral morphologic right lungs

An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a right lung.


Unicoronal synostosis

Synostosis affecting only one of the coronal sutures.


sensorineural hearing loss disorder

Hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII).


Fractured epiphysis of third metatarsal bone

A partial or complete breakage of the epiphysis of third metatarsal bone.


Ivory epiphysis of the proximal phalanx of the 5th toe


hereditary episodic ataxia

Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7), but most of the reported cases belong to EA1 and EA2.


Deviation of the hallux

Displacement of the big toe from its normal position.


Focal autonomic seizure with lacrimation

A type of focal autonomic seizure characterized by lacrimation as the initial semiological feature.


Ameloblastoma

Ameloblastoma is a benign odontogenic tumor generally present in the jaw bone. The tumor originates from the residual epithelium of the tooth germ, epithelium of odontogenic cysts stratified squamous epithelium and epithelium of the enamel organ.


Increased erythrocyte uroproporphyrin concentration

Concentration of uroproporphyrin in erythrocytes above the upper limit of normal.


Focal impaired awareness emotional seizure with crying

Focal emotional seizure with crying in which awareness is partially or fully impaired at some point during the seizure.


Intestinal duplication

A developmental disorder in which there is a duplication the entire intestine or of a portion of the intestine.


Decreased palmar creases

Poorly defined or shallow palmar creases.


Elbow flexion contracture

An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.


Mandibular osteomyelitis

Osteomyelitis of the lower jaw.


Stiff toe

A sensation of tightness in a toe joint when attempting to move it, especially after a period of inactivity.


Reduced erythrocyte glutathione concentration

Concentration of glutathione in red blood cells below the lower limit of normal. Glutathione (GSH) is an important redox active biomolecule critical in the maintenance and regulation of cellular and organismal health.


Sclerosis of the distal phalanx of the 2nd finger


Curved proximal phalanx of the 5th finger

Curved appearance of the proximal phalanx of the 5th finger.


Proximal muscle weakness

A lack of strength of the proximal muscles.


Hallux valgus

Lateral deviation of the great toe (i.e., in the direction of the little toe).


Absent dermoepidermal hemidesmosomes

Lack of demonstrable hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin.


Fractured lateral malleolus of fibula

A partial or complete breakage of the lateral malleolus of fibula.


Sternocleidomastoid amyotrophy

Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head.


Abnormal proportion of immature gamma-delta T cells relative to the total number of T cells.


Abnormal lymphocyte proliferation

Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population.


Reduced alpha-2-antiplasmin activity

Reduced activity of alpha-2-antiplasmin. This protein inactivates the protease plasmin that drives fibrinolysis.


dentin dysplasia

Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II.


T2 hypointense brainstem

A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a diffuse hypointensity affecting the entire brainstem.


Narrow pelvis bone

Reduced side to side width of the pelvis.


lymphatic system disorder

A disease involving the lymphatic part of lymphoid system.


Anti-granulocyte-macrophage colony stimulating factor antibody positivity

The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor.


Eclabion

A turning outward of the lip or lips, that is, eversion of the lips.


Facial hypertrichosis

Excessive, increased hair growth located in the facial region.


odontoid hypoplasia

An often asymptomatic developmental abnormality of the cervical spine. It is characterized by the hypoplasia of the odontoid which appears as a stubby peg of an odontoid process. Symptoms may develop after minor trauma and include localized neck pain, atlantoaxial instability, and transient or permanent neurologic manifestations.


Flexion contracture of the 5th toe

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


Slender ulna

Reduction in diameter of the ulna.


autosomal recessive nonsyndromic hearing loss 4

An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22. Mutation in the FOXI1 gene has been found to be a rare cause of EVA. EVA may also be rarely caused by digenic inheritance of heterozygous mutations in the SLC26A4 and FOXI1 genes, or in the SLC26A4 and KCNJ10 genes.


Abnormal upper motor neuron morphology

Any structural anomaly that affects the upper motor neuron.


Myocardial immune cell infiltration

An increase in the number of immune cells in myocardial tissue (which can be assumed to have migrated into the myocardium).


Medullary peritubular capillary lumen cholesterol emboli

Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the medulla of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.


Abnormality of the tongue

Any abnormality of the tongue.


Gastrointestinal dysmotility

Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.


Fatty streak

Yellow-colored streaks, patches, or spots on the intimal surface of arteries. Fatty streaks stain red with Sudan III or Sudan IV.


Finger hyperphalangy

Hyperphalangy is a digit morphology in which increased numbers of phalanges are arranged linearly within a digit. That is, there is an accessory phalanx that is arranged linearly with the other phalanges.


Arcuate artery intimal mucoid edema

Accumulation of edematous extracellular matrix in intima resembling mucus. This feature appears pale blue on hematoxylin and eosin staining.


Aplasia of the 1st metacarpal

Absent first metacarpal (long bone) of the hand.


Abnormal jejunum morphology

An abnormality of the jejunum, i.e., of the middle section of the small intestine.


Fetor hepaticus

Fetor hepaticus is the characteristic breath of patients with severe parenchymal liver disease, which has been said to resemble the odor of a mixture of rotten eggs and garlic.


Patchy sclerosis of the proximal phalanx of the 2nd finger

Uneven (irregular) increase in bone density of the proximal phalanx of the second finger.


Chronotropic incompetence

Inability of the heart to increase its rate commensurate with increased activity or demand.


Decreased serum thromboxane B2

A reduction in the concentration of thromboxane B2 in the blood circulation.


Increased uridine diphosphate glucose-4-epimerase level in red blood cells

An increase in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.


D-2-hydroxyglutaric aciduria

D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.


Pulmonary arterial medial hypertrophy

Increase in mass of the tunica media of the arteries in the pulmonary circulation.


Aganglionosis of the small intestine

A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the small intestine.


Abnormal functional residual capacity

A deviation from normal values for the functional residual capacity, which is defined as the volume remaining in the lungs after a normal, passive exhalation.


Curved distal phalanx of the hallux

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


Focal verbal automatism seizure

A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset.


Y-shaped metacarpals

Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly.


Progressive leg bowing

Progressive bending or abnormal curvature of the leg.


Cervical lymphadenopathy

Enlarged lymph nodes in the neck.


Aplasia/Hypoplasia of the 5th metacarpal

Aplasia or Hypoplasia affecting the 5th metacarpal.


Quadriceps muscle atrophy

Muscular atrophy involving the quadriceps muscle.


Pseudoepiphysis of the middle phalanx of the 5th toe

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


Ungual fibroma

Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold) or subungual (originating under the nail plate).


Abnormal pulmonary thoracic imaging finding

This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density.


Exercise-induced U wave inversion

U wave inversion that is induced by exercise stress testing.


Agenesis of permanent maxillary lateral incisor

Agenesis of one or more upper lateral secondary incisor.


Elevated circulating pristanic acid concentration

Concentration of pristanic acid in the blood circulation above the upper limit of normal.


Abnormal pericardium morphology

An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery.


Extremely elevated creatine kinase

An increased creatine kinase level more than 50X above the upper normal level.


Labial adhesion

Synechia vulvae (adhesions of the labia minora) are characterized by a complete or partial fusion of the labia minora in the midline.


Umbilical cord cyst

Any cystic lesion associated with the umbilical cord.


Bradylalia

Slow speech.


Triangular shaped proximal phalanx of the 5th finger

Triangular shaped proximal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


3-4 finger syndactyly

Syndactyly with fusion of fingers three and four.


Hyperchloremic metabolic acidosis

A form of metabolic acidosis with increased serum chloride levels.


Normochromic microcytic anemia

A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.


Distal amyotrophy

Muscular atrophy affecting muscles in the distal portions of the extremities.


Purely bicuspid aortic valve

A type of bicuspid aortic valve (BAV) characterized by two equal-sized cusps, with no raphe and only two commissures. There is a lateral arrangement of the free edge of the cusps. Note that this differs from some other forms of BAV in which there are three commissures and two of the three cusps are joined by a raphe forming two functional leaflets. This type of BAV often is associated with aortic stenosis.


Autoamputation

Auto-amputation is the spontaneous detachment of an appendage from the body due to long standing pathology.


Increased cerebral lipofuscin

Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.


Abnormal fingertip morphology

An abnormal structure of the tip (end) of a finger.


Rachitic rosary

A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary.


Myocardial sarcomeric disarray

A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and actin that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes.


Cortical irregularity of humeral diaphysis

An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus.


Aplasia/Hypoplasia of the earlobes

Absence or underdevelopment of the ear lobes.


Abnormality of the phalanges of the 5th toe


Curved distal phalanx of the 2nd toe

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


Muscle hypertrophy of the lower extremities

Muscle hypertrophy primarily affecting the legs.


Asymmetric limb muscle stiffness

Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in an asymmetric pattern.


Absence of renal corticomedullary differentiation

A lack of differentiation between renal cortex and medulla on diagnostic imaging.


Vasovagal syncope

A condition in which neurally-mediated syncope occurs due to a specific circumstance, such as micturition, defecation, coughing, or traction of the hair. (ACC/AHA)


Partial duplication of the distal phalanx of the 3rd toe

Partial duplication of distal phalanx of third toe.


Hypoplastic ilia

Underdevelopment of the ilium.


Anteriorly placed odontoid process

Anterior mislocalization of the dens of the axis.


Toe clinodactyly

Bending or curvature of a toe in the tibial direction (i.e., towards the big toe).


Focal aware cognitive seizure with auditory agnosia

A focal cognitive seizure with auditory agnosia characterized by retained awareness throughout the seizure.


Abnormality of the distal phalanx of the 3rd toe


Visceral hemangioma

A hemangioma arising from within visceral structures, the internal organs of the body.


Intratubular calcium phosphate casts

Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney.


Spinal neurenteric cyst

A neurenteric cyst located in the spine.


Anti-GD1b IgM antibody positivity

The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside.


Atrophy/Degeneration involving the caudate nucleus


Anti-nuclear matrix protein-2 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NXP-2.


Amniotic constriction rings of legs

Amniotic constriction rings affecting the legs.


Mesangial fibrillary deposits

Extracellular mesangial aggregates composed of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material.


Limb apraxia

Difficulty in performing the correct execution of limbs movements in absence of motor impairment.


Abnormality of genioglossus muscle

An abnormality of a genioglossus muscle.


Joint contracture of the 3rd finger

Chronic loss of joint motion in the 3rd finger due to structural changes in non-bony tissue. The term camptodactyly of the 3rd finger is used if the distal and/or proximal interphalangeal joints are affected.


Abnormal ossification of the pubic bone

Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis.


Abnormal femoral neck morphology

An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).


Intrahepatic cholestasis with episodic jaundice


Reticulate pigmentation of oral mucosa

A net-like pattern of increased pigmentation of the oral cavity.


Corpus callosum atrophy

The presence of atrophy (wasting) of the corpus callosum.


Pill-rolling tremor

A type of resting tremor characterized by simultaneous rubbing movements of thumb and index fingers against each other.


Acute bronchitis

Inflammation of the large airways of the lung with rapid onset and short course usually associated with cough, mucus production, shortness of breath, wheezing, and chest tightness.


Multiple meningiomas

The occurrence of multiple distinct meningiomas in the same individual.


Aplasia of the proximal phalanx of the hallux


Abnormal CSF histidine concentration

Any deviation from the normal concentration of histidine in the cerebrospinal fluid.


Postexertional symptom exacerbation

Post-exertional symptom exacerbation (PESE), also referred to as post-exertional malaise (PEM), is defined as the worsening of symptoms that can follow minimal cognitive, physical, emotional, or social activity, or activity that could previously be tolerated. Symptoms typically worsen 12 to 72 hours after activity and can last for days or even weeks, sometimes leading to a relapse.


conotruncal heart malformations

Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome. A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).


Sacral hypertrichosis

Excessive, increased hair growth located in the sacral region.


Aplasia/Hypoplasia of the thymus

Absence or underdevelopment of the thymus.


Elevated mean arterial pressure

An abnormal increase in the average blood pressure in an individual during a single cardiac cycle.


Paranasal sinus hypoplasia

Underdevelopment of the paranasal sinuses.


Extra-abdominal umbilical vein varix

Focal dilatation of the extra-abdominal portion of the umbilical vein. An extra-abdominal umbilical varix is difficult to diagnose prenatally as it can appear like a cyst on ultrasound prior to birth.


Palmar neurofibroma

A neurofibroma (benign peripheral nerve sheath tumor) localized in the palm of the hand.


Bracket epiphysis of the distal phalanx of the 5th finger

An abnormality of the distal phalanx of the fifth finger 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.


Patchy sclerosis of 2nd toe phalanx

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.


Abnormal circulating tryptophan concentration

Any deviation from the normal concentration of tryptophan in the blood circulation.


Ulnar deviation of the hand or of fingers of the hand


Stippling of the epiphysis of the distal phalanx of the 3rd finger

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 3rd finger.


Urticarial plaque

A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter.


Irregular epiphysis of the distal phalanx of the 2nd finger

Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger.


Superior crossed-fused renal ectopia

A type of cross fused renal ectopia in which the ectopic kidney lies superiorly and its lower pole fuses with the upper pole of the normal kidney. The renal pelvis of both kidneys lies anteriorly.


Gastrocnemius myalgia

Pain of the gastrocnemius muscle.


Childhood onset sensorineural hearing impairment

Sensorineural hearing impairment with childhood onset.


Broad forearm bones

Abnormally wide bone of the skeleton of forearm.


Mirror image foot polydactyly

Mirror image duplication of digits affecting the feet.


Paraspinal neurofibroma

A neurofibroma (benign peripheral nerve sheath tumor) localized adjacent to the spine.


Low 10-minute APGAR score

A normal APGAR score can be coded as 'not Low 10-minute APGAR score'.


Basal lamina onion bulb formation

A type of onion bulb formation prominently affecting the area of the basal lamina.


Elevated CSF neurofilament light chain concentration

Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large calibre myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases.


Recurrent gram-negative bacterial infections

Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents.


Duplication of the distal phalanx of the hallux


Cone-shaped capital femoral epiphysis

A cone-shaped deformity of the proximal epiphysis of the femur.


Semilunar tooth

An incisor with a half-moon shape incisal edge.


Aplasia/Hypoplasia involving bones of the skull


Extension contracture of toe

A type of toe joint contracture in which the joint lacks full expected flexion, so that the two bony segments on either side of their connecting joint cannot be brought together.


Abnormality of the distal phalanx of the 2nd finger


Abnormality of skin adnexa physiology

Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.


Increased erythrocyte coproporphyrin concentration

Concentration of coproporphyrin in erythrocytes above the upper limit of normal.


Cone-shaped epiphysis of the proximal phalanx of the 4th finger

A cone-shaped appearance of the epiphysis of the proximal phalanx of the ring finger 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.


Focal impaired awareness cognitive seizure with dysgraphia/agraphia

A focal cognitive seizure with dysgraphia / agraphia characterized by impairment of awareness at some point during the seizure.


Ollier disease

A rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones.


Abnormal circulating nicotinurate concentration

Any deviation from the normal concentration of nicotinurate in the blood.


Osteolytic defects of the proximal phalanx of the 4th finger

Dissolution or degeneration of bone tissue of the proximal phalanx of the 4th finger.


Bracket epiphysis of the middle phalanx of the 2nd finger

An abnormality of the middle phalanx of the second finger 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.


Patchy sclerosis of the distal phalanx of the 2nd toe


Peripheral pulmonary artery stenosis

Stenosis of a peripheral branch of the pulmonary artery.


Telangiectasia of the skin

Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.


malignant mesothelioma

A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos.


Reduced subcutaneous adipose tissue

A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness.


Hammertoe

Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.


Delayed ossification of pubic rami

Delayed maturation and calcification of the rami (branches) of the pubic bone.


Arcuate intimal/medial venulitis

Inflammation of arcuate veins of the kidney, which may involve only the intima or can be transmural.


Excessive insulin response to glucagon test

An abnormally high increase in insulin levels following a glucagon stimulation test.


Elevated carcinoma antigen 125 level

An increased blood concentration of carcinoma antigen 125 (CA-125). CA-125, also known as mucin 16, can exhibit increased blood levels in certain types of cancer.


Deep palmar crease

Excessively deep creases of the palm.


Periungual teleangiectasia

Telangiectasia (small dilated blood vessels) located near to the fingernails or toenails.


Neutrophil nuclear clefts

An abnormality of the nucleus of neutrophils, which presents as either a type I nuclear cleft, where the nuclear cleft may show a transition into a round/oval shape. The second type nuclear cleft, which runs perpendicular to the nuclear surface, and this type of cleft might be related to nuclear lobe formation.


Branched-chain aminoaciduria

An increased level of a branched chain family amino acid in the urine.


Reduced CSF cystine concentration

Concentration of cystine in the cerebrospinal fluid below the lower limit of normal. Cystine is sulfur-containing amino acid obtained by the oxidation of two cysteine molecules which are then linked via a disulfide bond.


Tapered phalanx of finger

Phalanges of the fingers becoming thinner toward the distal end.


Alveolar septal thickening

Increased width of the alveolar septum, which is the structure that separates neighboring alveoli. This finding can be appreciated on histology.


Increased circulating specific IgE antibody


Deficit in nonword repetition

Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory.


Decreased circulating transcobalamin II concentration

Concentration of transcobalamin II in the blood circulation below the lower limit of normal.


Femoral arterial calcification

An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the femoral artery.


Coronary sinus diverticulum

A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus.


Partial absence of specific antibody response to meningococcus vaccine

A reduced ability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination.


Abnormal proportion of naive CD4 T cells

Any abnormality in the proportion of naive CD4 T cells relative to the total number of T cells.


Abnormal pituitary glycoprotein hormone alpha subunit level

Any deviation from the normal concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081).


Focal-onset epileptic spasm

A type of epileptic spasm of focal onset.


Increased circulating fetuin A concentration

An elevation above normal of fetuin A in the blood circulation.


Moderate expressive language delay

A moderate delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.


Finger syndactyly

Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism".


Second toe symphalangism

Fusion of the interphalangeal joints of the 2nd toe.


occipital encephalocele

A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.


Exercise-induced myalgia

The occurrence of an unusually high amount of muscle pain following exercise.


Reduced respiratory ciliary beating frequency

An abnormal reduction in the number of beats per unit time of the respiratory cilia.


Ventriculomegaly

An increase in size of the ventricular system of the brain.


Patchy sclerosis of the proximal phalanx of the 2nd toe


Anti-beta-2-Glycoprotein I IgM antibody positivity

Presence of IgM antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome.


Labial melanotic macule

Flat, distinct, discolored area on the lip less than 1 cm wide not associated with a change in the thickness or texture.


Fetal intraventricular hemorrhage without ventriculomegaly

A type of fetal intraventricular hemorrhage characterized by clear hemorrhage spillover to the ventricles filling less than 50% of the lateral ventricle and without ventriculomegaly of greater than 15 mm in the transverse diameter of the lateral ventricular atrium.


Abnormal tendon morphology

An abnormality of the structure or form of the tendons, also often called sinews.


Fractured middle phalanx of manual digit 4

A partial or complete breakage of the middle phalanx of manual digit 4.


Increased circulating T4 concentration

An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).


Nephroblastomatosis

Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood.


Chronic tinea infection

The term tinea means fungal infection, whereas dermatophyte refers to the fungal organisms that cause tinea. This term refers to a tinea infection that is chronic or recalcitrant to treatment and may be reflective of an immune defect.


Abnormality of the epiphysis of the proximal phalanx of the 2nd finger


Chronic decreased circulating IgE

A lasting reduction beneath the normal level of total immunoglobulin E (IgE) in the blood.


Non-motor seizure

A seizure with clinical manifestation but without motor signs (other than possible behavior arrest) as its initial clinical manifestation. The electrographic onset may be generalized, focal, or unknown.


Abnormal granulocyte morphology

Any structural abnormality or abnormal count of granulocytes.


Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal

Fusion of the proximal phalanx of the 5th finger with the 5th metacarpal.


Acromelia of the upper limbs

Shortening of the arms predominantly affecting terminal parts of the arm in relation to the upper and middle limb segments.


Anti-GT1b antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against T1b ganglioside.


Lupus anticoagulant

Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces.


Vertebrobasilar dolichoectasia

Elongation, dilatation, and/or tortuosity of the vertebrobasilar segment. The definition of VBD includes: (i) diameter of basilar or vertebral artery over 4.5 mm; or (ii) deviation of any portion more than 10 mm from the shortest expected course; and (iii) length of basilar artery over 29.5 mm or length of intracranial vertebral artery over 23.5 mm.


Increased proportion of immature B cells

An elevation in the proportion above normal of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+).


Bacteria in cerebrospinal fluid

Presence of bacteria in the cerebrospinal fluid, as manifested by visual inspection or bacterial culture results.


Cleft lip

A gap in the lip or lips.


Reduced circulating complement factor H related protein 1 concentration

Decreased level of circulating complement factor H related protein 1 concentration in the blood circulation.


adrenal cortex neoplasm

A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05)


Cutaneous hamartoma

A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the skin.


Decreased HDL3c concentration

A reduction below the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.


Unilateral cryptorchidism

Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.


Increased left ventricular end-diastolic volume

Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole).


benign urinary system neoplasm

A non-metastasizing neoplasm that arises from the organs that comprise the urinary system. Representative examples include renal oncocytoma, bladder inverted papilloma, and urothelial papilloma.


Focal cortical dysplasia type IIId

A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to other lesions acquired during early life (not included into FCD Type IIIa-c). These lesions comprise a large spectrum including traumatic brain injury, glial scarring after prenatal or perinatal ischemic injury or bleeding, and inflammatory or infectious diseases, i.e. Rasmussen encephalitis, limbic encephalitis, bacterial or viral infections.


second branchial cleft anomaly

A congenital defect in the neck that occurs during early embryonic development. It is caused by developmental abnormalities of the pharyngeal arches and results in the development of a cyst or a fissure in the side of the neck.


Femoral spur

A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck.


Short distal phalanx of hallux

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


congenital velopharyngeal incompetence

Failure of the soft palate to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (adenoidectomy; cleft palate) or an incompetent palatopharyngeal sphincter. It is characterized by hypernasal speech.


Reduced delayed hypersensitivity

Decreased ability to react to a delayed hypersensitivity skin test.


akinetic mutism

A syndrome characterized by a silent and inert state without voluntary motor activity despite preserved sensorimotor pathways and vigilance. Bilateral frontal lobe dysfunction involving the anterior cingulate gyrus and related brain injuries are associated with this condition. This may result in impaired abilities to communicate and initiate motor activities. (From Adams et al., Principles of Neurology, 6th ed, p348; Fortschr Neurol Psychiatr 1995 Feb;63(2):59-67)