name: lysobisphosphatidic acid metabolic process

description: The chemical reactions and pathways involving a lysobisphosphatidic acid. A lysobisphosphatidic acid is a lysophosphatidic acid having the unusual property of a phosphodiester moiety linked to positions sn-1 and sn1' of glycerol; and two additional fatty acids esterified to the glycerol head group.


name: lysobisphosphatidic acid biosynthetic process

category: biolink:BiologicalProcess biolink:Occurrent biolink:OntologyClass biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent

description: The chemical reactions and pathways resulting in the formation of a lysobisphosphatidic acid. A lysobisphosphatidic acid is a lysophosphatidic acid having the unusual property of a phosphodiester moiety linked to positions sn-1 and sn1' of glycerol; and two additional fatty acids esterified to the glycerol head group.


description: The chemical reactions and pathways involving a UDP-4-deoxy-4-formamido-beta-L-arabinopyranose.


description: The chemical reactions and pathways resulting in the breakdown of a UDP-4-deoxy-4-formamido-beta-L-arabinopyranose.


description: The chemical reactions and pathways resulting in the formation of a UDP-4-deoxy-4-formamido-beta-L-arabinopyranose.


kojic acid metabolic process

description: The chemical reactions and pathways involving kojic acid.


kojic acid biosynthetic process

description: The chemical reactions and pathways resulting in the formation of kojic acid.


Abnormality of body height

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

description: Deviation from the norm of height with respect to that which is expected according to age and gender norms.


Autosomal recessive inheritance

description: A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).


name: Abnormal morphology of female internal genitalia

description: An abnormality of the female internal genitalia.


Functional abnormality of the bladder

description: Dysfunction of the urinary bladder.


Recurrent urinary tract infections

description: Repeated infections of the urinary tract.


Neurogenic bladder

description: A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention.


Hypoplasia of the uterus

description: Underdevelopment of the uterus.


Abnormality of the bladder

description: An abnormality of the urinary bladder.


Urinary retention

description: Inability to completely empty the urinary bladder during the process of urination.


Nocturia

description: Abnormally increased production of urine during the night leading to an unusually frequent need to urinate.


Urinary hesitancy

description: Difficulty in beginning the process of urination.


Urinary incontinence

description: Loss of the ability to control the urinary bladder leading to involuntary urination.


Megacystis

description: Dilatation of the bladder postnatally.


name: Abnormal male internal genitalia morphology

description: An abnormality of the male internal genitalia.


Inguinal hernia

description: Protrusion of the contents of the abdominal cavity through the inguinal canal.


name: Functional abnormality of male internal genitalia


name: Abnormal male external genitalia morphology

description: Any structural abnormality of male external genitalia.


Ambiguous genitalia, male

description: Ambiguous genitalia in an individual with XY genetic gender.


Hydrocele testis

description: Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.


Abnormal testis morphology

description: An anomaly of the testicle (the male gonad).


Abnormal penis morphology

description: Abnormality of the male external sex organ.


Epispadias

description: Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias.


Long penis

description: Penile length more than 2 SD above the mean for age.


Chordee

description: Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees.


Absent external genitalia

description: Lack of external genitalia in a male or female individual.


Abnormal scrotum morphology

description: Any structural abnormality of the scrotum, i.e., the sac that contains the testes, epididymis, and the lower part of the spermatic cord.


Small scrotum

description: Apparently small scrotum for age.


Bifid scrotum

description: Midline indentation or cleft of the scrotum.


Shawl scrotum

description: Superior margin of the scrotum superior to the base of the penis.


Hypoplastic male external genitalia

description: Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra).


Perineal hypospadias

description: Hypospadias with location of the urethral meatus in the perineal region.


Urethral atresia, male

description: Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males.


Macroorchidism

description: The presence of abnormally large testes.


name: Abnormal female external genitalia morphology

description: Any structural abnormality of the female external genitalia.


Abnormal clitoris morphology

description: Any structural abnormality of the clitoris.


Abnormal labia morphology

description: An anomaly of the labia, the externally visible portions of the vulva.


Hypoplastic labia majora

description: Undergrowth of the outer labia.


Clitoral hypoplasia

description: Developmental hypoplasia of the clitoris.


Ambiguous genitalia, female

description: Ambiguous genitalia in an individual with XX genetic gender.


Fused labia minora

description: Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction.


Urethral atresia, female

description: Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females.


Abnormality of the ureter

description: An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.


Ureteral stenosis

description: The presence of a stenotic, i.e., constricted ureter.


Hydroureter

description: The distention of the ureter with urine.


Ureteral duplication

description: A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder.


Renal duplication

description: A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters.


Abnormality of the kidney

description: An abnormality of the kidney.


Abnormality of the genital system

description: An abnormality of the genital system.


Abnormality of the urinary system

description: An abnormality of the urinary system.


name: Abnormality of reproductive system physiology

description: An abnormal functionality of the genital system.


Duplicated collecting system

description: A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice.


Horseshoe kidney

description: A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.


Ectopic kidney

description: A developmental defect in which a kidney is located in an abnormal anatomic position.


Abnormal renal tubule morphology

description: An abnormality of the renal tubules.


Renal tubular atrophy

description: The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules.


Abnormal renal glomerulus morphology

description: A structural anomaly of the glomerulus.


Tall stature

description: A height above that which is expected according to age and gender norms.


Polyuria

description: An increased rate of urine production.


Enlarged kidney

description: An abnormal increase in the size of the kidney.


Renal corticomedullary cysts

description: The presence of multiple cysts at the border between the renal cortex and medulla.


name: Renal juxtaglomerular cell hypertrophy/hyperplasia

description: Increased number and size of the juxtaglomerular cells.


Proximal tubulopathy

description: Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle.


Renal phosphate wasting

description: High urine phosphate in the presence of hypophosphatemia.


Phenotypic abnormality

description: A phenotypic abnormality.


Abnormality of the genitourinary system

description: The presence of any abnormality of the genitourinary system.


Pelvic kidney

description: A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis.


Renal salt wasting

description: A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s).


Renal potassium wasting

description: High urine potassium in the presence of hypokalemia.


Menorrhagia

description: Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.


Female hypogonadism

description: Decreased functionality of the female gonads, i.e., of the ovary.


Bifid uterus

description: The presence of a bifid uterus.


Uterine prolapse

description: The presence of prolapse of the uterus.


Abnormality of the menstrual cycle

description: An abnormality of the ovulation cycle.


Abnormal vagina morphology

description: Any structural abnormality of the vagina.


Rectovaginal fistula

description: The presence of a fistula between the vagina and the rectum.


Vaginal atresia

description: Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion.


Aplasia of the uterus

description: Aplasia of the uterus.


Abnormality of head or neck

description: An abnormality of head and neck.


Abnormality of the mouth

description: An abnormality of the mouth.


Oral ulcer

description: Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.


Abnormality of the tongue

description: Any abnormality of the tongue.


Abnormal lip morphology

description: An abnormality of the lip.


Narrow mouth

description: Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).


Median cleft upper lip

description: A type of cleft lip presenting as a midline (median) gap in the upper lip.


Glossoptosis

description: Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly.


Abnormal oral cavity morphology

description: Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth.


Abnormality of the dentition

description: Any abnormality of the teeth.


Severe periodontitis

description: A severe form of periodontitis.


Abnormality of the gingiva

description: Any abnormality of the gingiva (also known as gums).


Abnormal uvula morphology

description: Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate.


Abnormal palate morphology

description: Any abnormality of the palate, i.e., of roof of the mouth.


Submucous cleft hard palate

description: Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.


Abnormal upper lip morphology

description: An abnormality of the upper lip.


Abnormal lower lip morphology

description: An abnormality of the lower lip.


Thick lower lip vermilion

description: Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).


Lobulated tongue

description: Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour.


Short upper lip

description: Decreased width of the upper lip.


Narrow palate

description: Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).


Abnormal oral frenulum morphology

description: An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity.


Accessory oral frenulum

description: Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip.


Open mouth

description: A facial appearance characterized by a permanently or nearly permanently opened mouth.


Lower lip pit

description: Depression located on the vermilion of the lower lip, usually paramedian.


Abnormal parotid gland morphology

description: Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear.


Short lingual frenulum

description: The presence of an abnormally short lingual frenulum.


Pursed lips

description: An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance.


Triangular mouth

description: The presence of a triangular form of the mouth.


Trismus

description: Limitation in the ability to open the mouth.


Lip telangiectasia

description: Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips.


Thick upper lip vermilion

description: Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective).


Xerostomia

description: Dryness of the mouth due to salivary gland dysfunction.


High palate

description: Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).


Thin upper lip vermilion

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


Gingival hyperkeratosis

description: Hyperkeratosis of the gingiva.


Hypogeusia

description: A decreased ability to perceive flavor.


Gingival bleeding

description: Hemorrhage affecting the gingiva.


Tongue telangiectasia

description: Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue.


Oral cavity telangiectasia

description: Presence of telangiectases in the oral cavity.


Everted lower lip vermilion

description: An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.


Thin vermilion border

description: Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).


Abnormality of the head

description: An abnormality of the head.


name: Abnormality of the fontanelles or cranial sutures

description: Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments).


Abnormality of the anterior fontanelle

description: An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures.


Small anterior fontanelle

description: Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms.


Large fontanelles

description: In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms.


Abnormality of skull size

description: Any abnormality of the size of the skull.


Parietal bossing

description: Parietal bossing is a marked prominence in the parietal region.


Brachyturricephaly

description: Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region.


Abnormal paranasal sinus morphology

description: Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses.


Brachycephaly

description: An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.


Dense calvaria

description: An abnormal increase of density of the bones making up the calvaria.


Microcephaly

description: Head circumference below 2 standard deviations below the mean for age and gender.


Progressive microcephaly

description: Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.


Acute sinusitis

description: An acute form of sinusitis.


Macrocephaly

description: Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.


Wide anterior fontanel

description: Enlargement of the anterior fontanelle with respect to age-dependent norms.


Oxycephaly

description: Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull.


Abnormal mastoid morphology

description: An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone.


Cranial asymmetry

description: Asymmetry of the bones of the skull.


Dolichocephaly

description: An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.


Prominent occiput

description: Increased convexity of the occiput (posterior part of the skull).


Delayed cranial suture closure

description: Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age.


Abnormality of the face

description: An abnormality of the face.


Malar flattening

description: Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.


Small face

description: A face that is short and narrow.


Narrow face

description: Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).


Long face

description: Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).


Abnormal mandible morphology

description: Any abnormality of the mandible, the bone of the lower jaw.


Retrognathia

description: An abnormality in which the mandible is mislocalised posteriorly.


Coarse facial features

description: Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.


Facial edema

description: Swelling due to an excessive accumulation of fluid in facial tissues.


Broad face

description: Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective).


Epicanthus

description: A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.


Increased facial adipose tissue

description: An increased amount of subcutaneous fat tissue in the face.


Abnormality of the philtrum

description: An abnormality of the philtrum.


Broad philtrum

description: 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.


Abnormality of the forehead

description: An anomaly of the forehead.


Loss of facial adipose tissue

description: Loss of normal subcutaneous fat tissue in the face.


Full cheeks

description: Increased prominence or roundness of soft tissues between zygomata and mandible.


Low anterior hairline

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


Doll-like facies

description: A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin.


Facial hypotonia

description: Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).


Mask-like facies

description: A lack of facial expression often with staring eyes and a slightly open mouth.


Oval face

description: A face with a rounded and slightly elongated outline.


Abnormality of facial musculature

description: An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve).


Abnormality of the chin

description: An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw.


Pointed chin

description: A marked tapering of the lower face to the chin.


Microretrognathia

description: A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.


Abnormal midface morphology

description: An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface.


Round face

description: The facial appearance is more circular than usual as viewed from the front.


Hypertelorism

description: Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).


Smooth philtrum

description: Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.


Square face

description: Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance.


Short philtrum

description: Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.


Facial asymmetry

description: An abnormal difference between the left and right sides of the face.


Triangular face

description: Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.


Abnormal maxilla morphology

description: An abnormality of the Maxilla (upper jaw bone).


Hypoplasia of the maxilla

description: Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.


Facial hemangioma

description: Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face.


Short chin

description: Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.


Prominent supraorbital ridges

description: Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.


Broad forehead

description: Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.


Hypomimic face

description: A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation.


Pugilistic facies

description: Coarse facial features reminiscent of those of a boxer.


Sloping forehead

description: Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.


Narrow forehead

description: Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).


Long philtrum

description: Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.


Whistling appearance

description: An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling.


Micrognathia

description: Developmental hypoplasia of the mandible.


High forehead

description: An abnormally increased height of the forehead.


Widow's peak

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


Small forehead

description: The presence of a forehead that is abnormally small.


Abnormality of the outer ear

description: An abnormality of the external ear.


Abnormal location of ears

description: Abnormal location of the ear.


Posteriorly rotated ears

description: A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).


Abnormality of the inner ear

description: An abnormality of the inner ear.


Tinnitus

description: Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.


Abnormal earlobe morphology

description: An abnormality of the lobule of pinna.


Hearing abnormality

description: An abnormality of the sensory perception of sound.


Abnormality of the nose

description: An abnormality of the nose.


Low-set, posteriorly rotated ears

description: Ears that are low-set and posteriorly rotated.


Low-set ears

description: Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.


Abnormality of the middle ear

description: An abnormality of the middle ear.


Acute otitis media

description: Acute otitis media is a short and generally painful infection of the middle ear.


Abnormal auditory canal morphology

description: Any structural abnormality of the external acoustic tube (also known as the auditory canal).


Abnormal cochlea morphology

description: An abnormality of the cochlea.


name: Incomplete partition of the cochlea type II

description: With incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation.


Abnormal pinna morphology

description: An abnormality of the pinna, which is also referred to as the auricle or external ear.


Cupped ear

description: Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).


Stapes ankylosis

description: Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles).


name: Abnormal periauricular region morphology


Preauricular skin tag

description: A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).


Small earlobe

description: Reduced volume of the earlobe.


Absent earlobe

description: Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura.


Thickened helices

description: Increased thickness of the helix of the ear.


Lop ear

description: Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha.


Prominent antihelix

description: The presence of an abnormally prominent antihelix.


Overfolded helix

description: A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.


name: Prelingual sensorineural hearing impairment

description: A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.


Macrotia

description: Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).


Stenosis of the external auditory canal

description: An abnormal narrowing of the external auditory canal.


name: Progressive sensorineural hearing impairment

description: A progressive form of sensorineural hearing impairment.


Protruding ear

description: Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).


Atresia of the external auditory canal

description: Absence or failure to form of the external auditory canal.


Abnormal choanae morphology

description: Abnormality of the choanae (the posterior nasal apertures).


Narrow nasal ridge

description: Decreased width of the nasal ridge.


Abnormal nasal septum morphology

description: An abnormality of the nasal septum.


Short nasal septum

description: Reduced superior to inferior length of the nasal septum.


Epistaxis

description: Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.


Abnormal nasal bridge morphology

description: Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi.


Prominent nasal bridge

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


Abnormal morphology of the nasal alae

description: An abnormality of the Ala of nose.


Underdeveloped nasal alae

description: Thinned, deficient, or excessively arched ala nasi.


Wide nasal bridge

description: Increased breadth of the nasal bridge (and with it, the nasal root).


Nasal mucosa telangiectasia

description: Telangiectasia of the nasal mucosa.


Abnormal nasal tip morphology

description: An abnormality of the nasal tip.


Depressed nasal tip

description: Decreased distance from the nasal tip to the nasal base.


Convex nasal ridge

description: 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.


Wide nose

description: Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.


Narrow nasal bridge

description: Decreased width of the bony bridge of the nose.


Prominent nose

description: Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.


Choanal stenosis

description: Abnormal narrowing of the choana (the posterior nasal aperture).


Broad nasal tip

description: Increase in width of the nasal tip.


Bifid nasal tip

description: A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip.


Depressed nasal ridge

description: Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.


Narrow nose

description: Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae.


Anteverted nares

description: Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).


Abnormality of the neck

description: An abnormality of the neck.


Webbed neck

description: Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.


Neck muscle weakness

description: Decreased strength of the neck musculature.


name: Increased adipose tissue around the neck

description: An increased amount of subcutaneous fat tissue around the neck.


Short neck

description: Diminished length of the neck.


Gastrointestinal angiodysplasia

description: Dysplasia affecting the vasculature of the gastrointestinal tract.


Long neck

description: Increased inferior-superior length of the neck.


Thickened nuchal skin fold

description: A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome.


Broad neck

description: Increased side-to-side width of the neck.


Retinal coloboma

description: A notch or cleft of the retina.


Abnormal cornea morphology

description: Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber.


Microcornea

description: A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.


Hyperopic astigmatism

description: A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error.


Retinopathy

description: Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.


Abnormal eyelid morphology

description: An abnormality of the eyelids.


Abnormal foveal morphology

description: An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina.


Downslanted palpebral fissures

description: The palpebral fissure inclination is more than two standard deviations below the mean.


Recurrent corneal erosions

description: The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations.


Abnormality of eye movement

description: An abnormality in voluntary or involuntary eye movements or their control.


name: Globe retraction and deviation on abduction


Abnormal eyelash morphology

description: An abnormality of the eyelashes.


Abnormal conjunctiva morphology

description: An abnormality of the conjunctiva.


Tortuosity of conjunctival vessels

description: The presence of an increased number of twists and turns of the conjunctival blood vessels.


Abnormality of vision

description: Abnormality of eyesight (visual perception).


Visual impairment

description: Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.


Vertical supranuclear gaze palsy

description: A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.


Abnormal electroretinogram

description: Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.


Slow saccadic eye movements

description: An abnormally slow velocity of the saccadic eye movements.


Developmental cataract

description: A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.


Alacrima

description: Absence of tear secretion.


Subcapsular cataract

description: A cataract that affects the region of the lens directly beneath the capsule of the lens.


Conjunctival telangiectasia

description: The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva.


Abnormality iris morphology

description: An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil.


Long eyelashes

description: Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).


Anophthalmia

description: Absence of the globe or eyeball.


Progressive visual loss

description: A reduction of previously attained ability to see.


Abnormal chorioretinal morphology

description: An abnormality of the choroid and retina.


Chorioretinal atrophy

description: Atrophy of the choroid and retinal layers of the fundus.


Abnormal eyebrow morphology

description: An abnormality of the eyebrow.


Epicanthus inversus

description: A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus.


Pseudopapilledema

description: Apparent optic disc swelling in the absence of increased intracranial pressure.


Abnormality of refraction

description: An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina.


Impaired ocular adduction

description: Reduced ability to move the eye in the direction of the nose.


Optic disc pallor

description: A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.


Abnormal conjugate eye movement

description: Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object.


Undetectable electroretinogram

description: Lack of any response to stimulation upon electroretinography.


Abnormal uvea morphology

description: An abnormality of the uvea, the vascular layer of the eyeball.


Leukocoria

description: An abnormal white reflection from the pupil rather than the usual black reflection.


Corneal scarring

description: Trauma to the cornea of the eye.


Absent eyelashes

description: Lack of eyelashes.


Lacrimal duct atresia

description: A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct.


Abnormal saccadic eye movements

description: An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements.


Hypometric saccades

description: Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.


Visual loss

description: Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).


Retinal hemorrhage

description: Hemorrhage occurring within the retina.


Thick eyebrow

description: Increased density/number and/or increased diameter of eyebrow hairs.


Centrocecal scotoma

description: A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape.


Pigmentary retinopathy

description: An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.


Upslanted palpebral fissure

description: The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.


Band keratopathy

description: An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation.


Shallow orbits

description: Reduced depth of the orbits associated with prominent-appearing ocular globes.


Abnormal optic nerve morphology

description: Abnormality of the optic nerve.


Progressive external ophthalmoplegia

description: Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades.


Abnormal sclera morphology

description: An abnormality of the sclera.


Blue sclerae

description: An abnormal bluish coloration of the sclera.


Abnormal anterior chamber morphology

description: Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris.


Shallow anterior chamber

description: Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased.


Ophthalmoparesis

description: Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.


Abnormality of the frontal hairline

description: An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not.


Abnormality of the pharynx

description: An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly.


Hypotelorism

description: Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).


Ophthalmoplegia

description: Paralysis of one or more extraocular muscles that are responsible for eye movements.


Central scotoma

description: An area of depressed vision located at the point of fixation and that interferes with central vision.


Supranuclear gaze palsy

description: A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.


Abnormality of the periorbital region

description: An abnormality of the region situated around the orbit of the eye.


Photophobia

description: Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.


Abnormal nasolacrimal system morphology

description: An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity.


Abnormal pupil morphology

description: An abnormality of the pupil.


Miosis

description: Abnormal (non-physiological) constriction of the pupil.


Abnormality of ocular smooth pursuit

description: An abnormality of eye movement characterized by impaired smooth-pursuit eye movements.


Impaired convergence

description: Reduced ability to turn the eyes inward in order to focus on a nearby object.


Blurred vision

description: Lack of sharpness of vision resulting in the inability to see fine detail.


Supranuclear ophthalmoplegia

description: A vertical gaze palsy with inability to direct the gaze of the eyes downwards.


Posterior embryotoxon

description: A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe.


Periorbital fullness

description: Increase in periorbital soft tissue.


Lacrimation abnormality

description: Abnormality of tear production.


Decreased lacrimation

description: Abnormally decreased lacrimation, that is, reduced ability to produce tears.


Impaired ocular abduction

description: An impaired ability of the eye to move in the outward direction (towards the side of the head).


Blue irides

description: A markedly blue coloration of the iris.


Long palpebral fissure

description: Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures.


Gaze-evoked nystagmus

description: Nystagmus made apparent by looking to the right or to the left.


Dysmetric saccades

description: The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results.


Abnormality of visual evoked potentials

description: An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex.


name: Abnormal amplitude of pattern reversal visual evoked potentials


Diplopia

description: Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.


Sparse eyelashes

description: Decreased density/number of eyelashes.


name: Decreased light- and dark-adapted electroretinogram amplitude

description: Descreased amplitude of eletrical response upon electroretinography.


Lipemia retinalis

description: A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature.


name: Palpebral fissure narrowing on adduction


Synophrys

description: Meeting of the medial eyebrows in the midline.


Horizontal nystagmus

description: Nystagmus consisting of horizontal to-and-fro eye movements.


Phthisis bulbi

description: Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease.


name: Macrodontia of permanent maxillary central incisor

description: Increased size of the maxillary central secondary incisor tooth.


Abnormality of the incisor

description: An abnormality of the Incisor tooth.


Oligodontia

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


Dental crowding

description: Changes in alignment of teeth in the dental arch


Delayed eruption of primary teeth

description: Delayed tooth eruption affecting the primary dentition.


Abnormal dental enamel morphology

description: An abnormality of the dental enamel.


Grayish enamel

description: A gray discoloration of the dental enamel.


Delayed eruption of teeth

description: Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.


Hypoplasia of teeth

description: Developmental hypoplasia of teeth.


Widely spaced teeth

description: Increased spaces (diastemata) between most of the teeth in the same dental arch.


Dental malocclusion

description: Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.


Agenesis of maxillary lateral incisor

description: Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor.


Microdontia

description: Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.


Tooth malposition

description: Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth.


Delayed eruption of permanent teeth

description: Delayed tooth eruption affecting the secondary dentition.


Conical tooth

description: An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally.


Diastema

description: Increased space between two adjacent teeth in the same dental arch.


Eruption failure

description: A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential.


Atypical behavior

description: Atypical behavior is an abnormality in a person's actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.


Hyperorality

description: Hyperorality is a condition characterized by an excessive preoccupation with oral sensations and behaviors, such as chewing, sucking, biting, swallowing, and excessive mouthing of objects.


Restlessness

description: A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior.


Emotional lability

description: Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.


Agitation

description: A state of extreme restlessness and excessive motor activity is associated with mental distress or a feeling of inner tension.


Aggressive behavior

description: Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).


Inappropriate behavior

description: An explicit or perceived action, demonstration, conduct, or language (verbal and written) that is contrary to generally accepted norms, rules, procedures, or unacceptable within the context in which it is carried out. Inappropriate behaviors could take place in a sexual or social context and could be aggressive, violent, impulsive, intimidating, or threatening in nature.


Restrictive behavior

description: Behavior characterized by an abnormal limitation to a few interests and activities.


Psychotic episodes

description: Periods of time during which an individual experiences significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality. These episodes are hallmark features of psychotic disorders such as schizophrenia, schizoaffective disorder, and certain forms of bipolar disorder.


name: Impaired ability to form peer relationships

description: Difficulty to establish relations with others in a comparable social group (peers) that may be manifested in pehnomena such as not being able to initiative a conversation, undersand social cues, or to discuss shared interests. This feature is associated with poor integration within a community or group.


Inflexible adherence to routines

description: 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.


Short attention span

description: Reduced attention span characterized by distractibility and impulsivity.


Irritability

description: A proneness to anger, i.e., a tendency to become easily bothered or annoyed.


Hallucinations

description: Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space.


Episodic paroxysmal anxiety

description: Recurrent attacks of severe anxiety, which occur without restriction to any particular situation or set of circumstances, are therefore unpredictable.


Apathy

description: Apathy is a quantitative reduction of motivation and the initiation and persistence of goal-directed behavior, where the accompanying emotions, thoughts, and social interactions are also suppressed.


Self-mutilation

description: Deliberate harm to one's body resulting in tissue damage, without a conscious intent to die.


Frontal release signs

description: Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes.


Low frustration tolerance

description: The feeling of frustration can be defined as an emotional reaction that occurs when a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration, characterized by crying or temper tantrums in children, or aggressive or other undesirable behaviors.


Diminished motivation

description: A reduction in goal-directed behavior, that is, motivation, is the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action.


Delusion

description: A delusion is a fixed false belief held despite evidence to the contrary. The term delusion broadly encompasses all false judgments that possess the following external characteristics to a significant, albeit unspecified, extent: (1) they are held with an exceptional level of conviction, accompanied by an unparalleled subjective certainty; (2) there is an inability to consider alternative experiences or compelling counter-arguments; (3) the content of the belief is impossible.


Inappropriate laughter

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


Delayed speech and language development

description: A degree of language development that is significantly below the norm for a child of a specified age.


Personality changes

description: An abnormal shift in patterns of thinking, acting, or feeling.


Hyperactivity

description: Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.


Lack of insight

description: Lack of insight (Anosognosia) is a neurological condition in which an individual is unaware of his or her own neurological deficit or psychiatric condition. Anosognosia can be associated with mental illness, dementia, and structural brain lesions and can affect an indviduals's conscious awareness of deficits involving judgment, emotions, memory, executive function, language skills, and motor ability.


name: Abnormal nonverbal communicative behavior

description: Abnormalities in eye contact, communicative facial expressions, gesture use, or the use of others' bodies to communicate convey shared meanings within a culture that replace or supplement verbal communication.


Decreased nerve conduction velocity

description: A reduction in the speed at which electrical signals propagate along the axon of a neuron.


Peripheral axonal degeneration

description: Progressive deterioration of peripheral axons.


Abnormal thorax morphology

description: Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).


Abnormal sternum morphology

description: An anomaly of the sternum, also known as the breastbone.


Pectus carinatum

description: A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.


Abnormality of the breast

description: An abnormality of the breast.


Abnormal rib morphology

description: An anomaly of the rib.


Short ribs

description: Reduced rib length.


Narrow chest

description: Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.


Abnormality of the diaphragm

description: Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity.


Abnormal thymus morphology

description: Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation.


Hypoplasia of the thymus

description: Underdevelopment of the thymus.


Abnormal scapula morphology

description: Any abnormality of the scapula, also known as the shoulder blade.


Primary amenorrhea

description: Abnormally late or absent menarche in a female with normal secondary sexual characteristics.


Hematuria

description: The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).


Abnormality of the urethra

description: An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body.


Renal steatosis

description: Abnormal fat accumulation in the kidneys.


Renal cortical cysts

description: Cysts of the cortex of the kidney.


Xanthine nephrolithiasis

description: The presence of xanthine-containing calculi (stones) in the kidneys.


Penoscrotal hypospadias

description: A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum.


Urinary tract atresia

description: Congenital absence of the normal opening of a structure of the urinary tract.


Abnormal internal genitalia

description: An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male).


Abnormality of Krebs cycle metabolism

description: An abnormality of the tricarboxylic acid cycle.


Reduced eye contact

description: A reduced frequency or duration of eye contact.


Delayed puberty

description: Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.


Hyperinsulinemic hypoglycemia

description: An increased concentration of insulin combined with a decreased concentration of glucose in the blood.


Anterior hypopituitarism

description: A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.


Insulin-resistant diabetes mellitus

description: A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels.


Primary hypothyroidism

description: A type of hypothyroidism that results from a defect in the thyroid gland.


Adrenal hypoplasia

description: Developmental hypoplasia of the adrenal glands.


name: Increased circulating gonadotropin level

description: Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.


Hyperactive renin-angiotensin system

description: An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms.


Abnormality of renin-angiotensin system

description: An abnormality of the renin-angiotensin system.


Increased circulating renin level

description: An increased level of renin in the blood.


Thyroid adenoma

description: The presence of a adenoma of the thyroid gland.


Insulin resistance

description: Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.


name: Neonatal insulin-dependent diabetes mellitus


Irregular menstruation

description: Abnormally high variation in the amount of time between periods.


Parathyroid hypoplasia

description: Developmental hypoplasia of the parathyroid gland.


name: Abnormality of the hypothalamus-pituitary axis

description: 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.


Secondary amenorrhea

description: The cessation of menstruation for six months or more in a female that is not pregnant, breastfeeding or menopausal.


Oligomenorrhea

description: Infrequent menses (less than 6 per year or more than 35 days between cycles).


name: Insulin-resistant diabetes mellitus at puberty


11 pairs of ribs

description: Presence of only 11 pairs of ribs.


Short sternum

description: Decreased inferosuperior length of the sternum.


Hypoplastic scapulae

description: Underdeveloped scapula.


Thin ribs

description: Ribs with a reduced diameter.


Broad ribs

description: Increased width of ribs


Deformed rib cage

description: Malformation of the rib cage.


Cupped ribs

description: Wide, concave rib end.


Horizontal ribs

description: A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12.


Abnormal clavicle morphology

description: Any abnormality of the clavicles (collar bones).


Long clavicles

description: Increased length of the clavicles.


Bifid ribs

description: A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray.


Bulging of the costochondral junction

description: Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage.


Short clavicles

description: Reduced length of the clavicles.


Lateral clavicle hook

description: An excessive upward convexity of the lateral clavicle.


Rib exostoses

description: Multiple circumscribed bony excrescences located in the ribs.


Rachitic rosary

description: A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib.


Thickened ribs

description: Increased thickness (diameter) of ribs.


Rib fusion

description: Complete or partial merging of adjacent ribs.


Flaring of rib cage

description: The presence of wide, concave anterior rib ends.


Progressive clavicular acroosteolysis

description: Progressive bone resorption in the distal part of the clavicle.


Anterior rib cupping

description: Wide, concave anterior rib end.


Flat glenoid fossa

description: Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.


Posterior rib fusion

description: Complete or partial merging of the posterior part of adjacent ribs.


Shield chest

description: A broad chest.


Pectus excavatum of inferior sternum

description: Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum.


Broad clavicles

description: Increased width (cross-sectional diameter) of the clavicles.


Superior pectus carinatum

description: Pectus carinatum affecting primarily the superior part of the sternum.


Scapular exostoses

description: The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage.


name: Abnormality of the costochondral junction

description: Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.


name: Enlargement of the costochondral junction

description: Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.


Missing ribs

description: A developmental anomaly with absence of one or more ribs.


Posterior rib cupping

description: Wide, concave posterior rib end.


Abnormality of the skeletal system

description: An abnormality of the skeletal system.


Abnormality of the vertebral column

description: Any abnormality of the vertebral column.


Platyspondyly

description: A flattened vertebral body shape with reduced distance between the vertebral endplates.


Abnormality of skeletal maturation

description: The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation.


Abnormal skull morphology

description: An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone.


name: Elevated imprint of the transverse sinuses


name: Thinning and bulging of the posterior fossa bones


name: Abnormal posterior cranial fossa morphology

description: An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum.


name: Posterior fossa cyst at the fourth ventricle


Thickened cortex of long bones

description: Abnormal thickening of the cortex of long bones.


Abnormal diaphysis morphology

description: An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone.


Abnormal metaphysis morphology

description: An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.


Hypoplastic ilia

description: Underdevelopment of the ilium.


Dumbbell-shaped long bone

description: An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses.


Jaundice

description: Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.


Single transverse palmar crease

description: The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.


Cafe-au-lait spot

description: Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.


Dry skin

description: Skin characterized by the lack of natural or normal moisture.


Sacral dimple

description: A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.


Cyanosis

description: Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.


Thin skin

description: Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.


Cutis marmorata

description: A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather.


Hypohidrosis

description: Abnormally diminished capacity to sweat.


Petechiae

description: Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.


Edema

description: An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.


Palmoplantar hyperkeratosis

description: Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.


Hyperextensible skin

description: A condition in which the skin can be stretched beyond normal, and then returns to its initial position.


Hyperhidrosis

description: Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.


Soft skin

description: Subjective impression of increased softness upon palpation of the skin.


Bruising susceptibility

description: An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.


Pallor

description: Abnormally pale skin.


Atypical scarring of skin

description: Atypically scarred skin .


Pruritus

description: Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.


Molluscoid pseudotumors

description: Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees.


Melanocytic nevus

description: A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.


Facial capillary hemangioma

description: Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face.


Axillary freckling

description: The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.


Abnormality of skin pigmentation

description: An abnormality of the pigmentation of the skin.


Multiple lentigines

description: Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots.


name: Dermatological manifestations of systemic disorders


Hirsutism

description: Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).


name: Accumulation of melanosomes in melanocytes


Eruptive xanthomas

description: 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.


Prominent superficial veins

description: A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal.


Anemic pallor

description: A type of pallor that is secondary to the presence of anemia.


Abnormal palmar dermatoglyphics

description: An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand.


name: Skin dimple over apex of long bone angulation


Soft, doughy skin

description: A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough.


Poikiloderma

description: Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.


Fragile skin

description: Skin that splits easily with minimal injury.


Subcutaneous lipoma

description: The presence of subcutaneous lipoma.


Absent distal interphalangeal creases

description: Absence of the distal interphalangeal flexion creases of the fingers.


Hypermelanotic macule

description: A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.


Parakeratosis

description: Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.


Intermittent jaundice

description: Jaundice that is sometimes present, sometimes not.


name: Absent dorsal skin creases over affected joints


Milia

description: Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.


Poor wound healing

description: A reduced ability to heal cutaneous wounds.


Axillary pterygium

description: Presence of a cutaneous membrane (flap) in the armpit.


Acrocyanosis

description: Bluish discoloration of the skin of the hands or feet.


Striae distensae

description: Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.


Episodic hyperhidrosis

description: Intermittent episodes of abnormally increased perspiration.


Mottled pigmentation

description: Patchy and irregular skin pigmentation.


Thickened skin

description: Laminar thickening of skin.


Cigarette-paper scars

description: Thin (atrophic) and wide scars.


Atrophic scars

description: Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.


Brushfield spots

description: The presence of whitish spots in a ring-like arrangement at the periphery of the iris.


Iris atrophy

description: Loss of iris tissue (atrophy)


Abnormally large globe

description: Diffusely large eye (with megalocornea) without glaucoma.


Optic nerve dysplasia

description: The presence of developmental dysplasia of the optic nerve.


Abnormal fundus morphology

description: Any structural abnormality of the fundus of the eye.


Abnormal macular morphology

description: A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina.


Macular hypoplasia

description: Underdevelopment of the macula lutea.


Retinal atrophy

description: Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.


Periorbital hyperpigmentation

description: Increased pigmentation of the skin in the region surrounding the orbit of the eye.


Posterior polar cataract

description: A polar cataract that affects the posterior pole of the lens.


Sudden loss of visual acuity

description: Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy.


Juvenile cataract

description: A type of cataract that is not apparent at birth but that arises in childhood or adolescence.


Keratoglobus

description: Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea.


Abnormality of corneal size

description: Any abnormality of the size or morphology of the cornea.


Visual field defect

description: An absolute or relative reduction in the extent of the normal field of vision.


Transient unilateral blurring of vision

description: Transient blurring of vision associated with the aura phase of migraine.


Trichiasis

description: Inversion and rubbing of the eyelashes against the globe of the eye.


Constriction of peripheral visual field

description: An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.


Retinal arteriolar tortuosity

description: The presence of an increased number of twists and turns of the retinal arterioles.


Severely reduced visual acuity

description: Severe reduction of the ability to see. On the 6m visual acuity scale, severe reduction is defined as less than 6/60 but at least 3/60. On the 20ft visual acuity scale, severe reduction is defined as less than 20/200 but at least 20/400. On the decimal visual acuity scale, severe reduction is defined as less than 0.1 but at least 0.05.


Lenticonus

description: A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly.


Retinal exudate

description: Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina.


Impaired horizontal smooth pursuit

description: An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects.


Saccadic smooth pursuit

description: An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements.


Septate vagina

description: The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases.


Abnormality of the hand

description: An abnormality affecting one or both hands.


Hand polydactyly

description: A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.


Arachnodactyly

description: Abnormally long and slender fingers ("spider fingers").


Abnormal finger morphology

description: An anomaly of a finger.


Broad palm

description: For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.


Split hand

description: A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.


Ulnar claw

description: An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm.


Tapered finger

description: The gradual reduction in girth of the finger from proximal to distal.


Hyperextensibility of the finger joints

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


Hand clenching

description: An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. In prenatal sonography of the fetal clenched hand, the index finger overlaps a clenched fist formed by the other digits. The proximal interphalangeal articulation of the index finger is flexed and ulnarly deviated, and the thumb is adducted.


Abnormal carpal morphology

description: An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate).


name: Ulnar deviation of the hand or of fingers of the hand


name: Abnormalities of placenta or umbilical cord

description: An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta).


Single umbilical artery

description: Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord.


Short umbilical cord

description: Decreased length of the umbilical cord.


name: Abnormality of prenatal development or birth

description: An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.


Distal symphalangism of hands

description: The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases.


Abnormal fingertip morphology

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


Prominent fingertip pads

description: A soft tissue prominence of the ventral aspects of the fingertips. The term "persistent fetal fingertip pads" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist.


Camptodactyly of 2nd-5th fingers

description: The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension.


Delayed ossification of carpal bones

description: Ossification of carpal bones occurs later than age-adjusted norms.


Clubbing

description: Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.


Autoamputation

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


name: Interphalangeal joint contracture of finger

description: Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue.


Spatulate thumbs

description: Spoon-shaped, broad thumbs.


name: Pointed proximal second through fifth metacarpals

description: All of the metacarpal bones of the hand have a pointed proximal appearance.


Abnormality of the thenar eminence

description: An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb.


Broad metacarpals

description: Abnormally broad metacarpal bones.


Abnormal fingernail morphology

description: An abnormality of the fingernails.


Nail bed telangiectasia

description: Telangiectases in the area of the nails.


2-3 finger syndactyly

description: Syndactyly with fusion of fingers two and three.


Hitchhiker thumb

description: With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand.


Slender finger

description: Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.


Wrist flexion contracture

description: A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.


Small thenar eminence

description: Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb.


Short tubular bones of the hand

description: Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals.


Hypotonia

description: Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.


Lethargy

description: A state of disinterest, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.


Intellectual disability, mild

description: Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.


Spasticity

description: A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.


Spastic paraplegia

description: Spasticity and weakness of the leg and hip muscles.


Coma

description: The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli.


Dysarthria

description: Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.


Excessive daytime somnolence

description: A state of abnormally strong desire for sleep during the daytime.


Global developmental delay

description: A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.


Hyporeflexia

description: Reduction of neurologic reflexes such as the knee-jerk reaction.


Choreoathetosis

description: Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).


Mental deterioration

description: Loss of previously present mental abilities, generally in adults.


Hemiparesis

description: Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.


Motor delay

description: A type of Developmental delay characterized by a delay in acquiring motor skills.


Abnormal corpus callosum morphology

description: Abnormality of the corpus callosum.


Hypertonia

description: A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.


Syncope

description: Syncope is a syndrome in which loss of consciousness is of relatively sudden onset, temporary (usually less than 1 to 2 minutes), self-terminating, and of usually rapid recovery. Syncope leads to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.


Tetany

description: A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency.


Areflexia

description: Absence of neurologic reflexes such as the knee-jerk reaction.


Spastic tetraparesis

description: Spastic weakness affecting all four limbs.


Gait disturbance

description: The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.


Confusion

description: Lack of clarity and coherence of thought, perception, understanding, or action.


Generalized hypotonia

description: Generalized muscular hypotonia (abnormally low muscle tone).


Abnormal cranial nerve morphology

description: Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.


Pachygyria

description: Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.


Tongue fasciculations

description: Fasciculations or fibrillation affecting the tongue muscle.


Dysmetria

description: A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.


name: Abnormal nervous system electrophysiology

description: An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations.


Giant somatosensory evoked potentials

description: An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials.


Reduced tendon reflexes

description: Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.


Abnormal cerebellum morphology

description: Any structural abnormality of the cerebellum.


Neonatal hypotonia

description: Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.


Cerebellar vermis hypoplasia

description: Underdevelopment of the vermis of cerebellum.


Muscle weakness

description: Reduced strength of muscles.


Hypoglycemic coma

description: Coma induced by low blood sugar.


name: EEG with irregular generalized spike and wave complexes

description: EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency.


Photosensitive myoclonic seizure

description: Generalised myoclonic seizure provoked by flashing or flickering light.


Myoclonus

description: Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.


Tremor

description: An unintentional, oscillating to-and-fro muscle movement about a joint axis.


Partial agenesis of the corpus callosum

description: A partial failure of the development of the corpus callosum.


Enhancement of the C-reflex

description: Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response.


Absent speech

description: Complete lack of development of speech and language abilities.


Psychotic mentation

description: A pattern of thinking and perceiving characterized by a loss of contact with reality, leading to significant changes in thoughts, perceptions, and behaviors.


Hyperreflexia

description: Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.


Brisk reflexes

description: Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.


Facial diplegia

description: Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy).


Slurred speech

description: Abnormal coordination of muscles involved in speech.


Jerk-locked premyoclonus spikes

description: Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG.


Plagiocephaly

description: Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.


Nystagmus-induced head nodding

description: Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision.


Calvarial skull defect

description: A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year.


Abnormal joint morphology

description: An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.


Flexion contracture

description: A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.


Joint dislocation

description: Displacement or malalignment of joints.


Limitation of joint mobility

description: A reduction in the freedom of movement of one or more joints.


Limited elbow extension

description: Limited ability to straighten the arm at the elbow joint.


Joint hypermobility

description: The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.


Abnormal hip joint morphology

description: An abnormality of the hip joint.


Joint swelling

description: The presence of swelling in a joint.


Joint stiffness

description: Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.


obsolete Joint laxity

description: Looseness or instability of a joint.


Hepatic fibrosis

description: The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.