Hypoplastic philtrum

Underdevelopment of the philtrum.


embryonal neoplasm

biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:NamedThing biolink:ThingWithTaxon

A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003


Hyperplasia of the maxilla

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

Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla.


Decreased proportion of central memory CD8-positive, alpha-beta T cells

A reduced proportion of CD8-positive, alpha-beta central memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.


Central cyanosis

Generalized bluish discoloration of the body and the visible mucous membranes, which occurs due to inadequate oxygenation secondary to conditions that lead to an increase in deoxygenated hemoglobin or presence of abnormal hemoglobin.


Abnormal geniohyoid muscle morphology

An abnormality of a geniohyoid muscle.


Sclerosis of the carpal bones

An elevation in bone density in one or more carpal bones of the hand.


renal dysplasia, bilateral

Bilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD.


Conjugated hyperbilirubinemia

Abnormally high level of conjugated bilirubin in the blood.


Partial absence of thumb

The absence of a phalangeal segment of a thumb.


Global brain atrophy

Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.


Increased circulating myelocyte count

An abnormally increased number of myelocytes in the peripheral blood circulation. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and seconday granules, and a nucleus:cytoplasm ratio of 2:1.


Decreased circulating thyrotropin releasing hormone concentration

Concentration of thyrotropin releasing hormone below the lower limit of normal in the blood circulation.


Bullet-shaped proximal phalanx of the thumb

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


Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole.


Dumbbell-shaped femur

The femur is shortened and displays flaring (widening) of the metaphyses.


Bilobate gallbladder

The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium.


Nail bed hemorrhage

Small areas of bleeding (hemorrhage) under the fingernail or toenail.


Episodic paroxysmal anxiety

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


Patchy sclerosis of the proximal phalanx of the thumb

An uneven increase in bone density of the proximal phalanx of the thumb.


Ambiguous atrioventricular connection

With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic right atrium connected to a morphologic left ventricle).


dyscalculia

A wide group of related learning disorders characterized by difficulties with mathematics and manipulating numbers; the difficulty with math may be caused or exacerbated by visuo-spatial or language processing difficulties.


Anti-HLA-B IgG3 antibody positivity

The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B).


Diaphyseal sclerosis of the upper limbs

An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Hyperbeta-alaninemia

Increased concentration of beta-alanine in the blood.


Stiff hip

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


Abnormal small intestinal mucosa morphology

A structural anomaly of the mucous lining of the small intestine.


Aplasia cutis congenita over posterior parietal area


Maternal seizure

A seizure during pregnancy.


Abnormal intestinal smooth muscle morphology

A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine.


iniencephaly

Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system.


Congenital hypoparathyroidism

Deficiency of parathyroid hormone with congenital onset.


Aplasia/Hypoplasia of the palmar creases

Absence or underdevelopment of the palmar creases.


Wide epiphyseal plates of the upper limbs


Symphalangism affecting the proximal phalanges of the hand


Elevated circulating desmosterol concentration

Concentration of desmosterol in the blood circulation above the upper limit of normal.


Left axis deviation

A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between -30 degrees and -90 degrees.


Complete duplication of the phalanges of the 2nd finger

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


Aplasia/Hypoplasia of the middle phalanges of the hand


Bilateral generalized polymicrogyria

Symmetric generalized polymicrogyria with no obvious gradient or region of maximal severity; may have abnormal high signal in white matter.


Pulmonary artery atresia

A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.


Lip fissure

A severe crack in a lip. A lip fissure may be painful, may bleed and often is a recurring manifestation.


Reduced intraepidermal small nerve fiber density

Reduced number of small nerve fibers in the skin.


Decreased circulating chylomicron concentration

Reduced plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins.


Absent thumbnail

Absence of thumb nail.


Short proximal phalanx of toe

Developmental hypoplasia (shortening) of proximal phalanx of toe.


choriocarcinoma

An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected.


Ectopic calcification

Deposition of calcium salts in a tissue or location in which calcification does not normally occur.


Cone-shaped epiphysis of the middle phalanx of the 5th finger

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


Decreased circulating hydroxyproline concentration

A decreased amount of hydroxyproline in the blood.


Facial telangiectasia

Telangiectases (small dilated blood vessels) located near the surface of the skin of the face.


Abnormal circulating cholesterol concentration

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


Aplasia/Hypoplasia of the distal phalanx of the 2nd finger


Amyloidosis of peripheral nerves

The presence of amyloid deposition in the nerves of the peripheral nervous system.


Decreased circulating dehydroepiandrosterone concentration


Abnormal conus terminalis morphology

Any structural anomaly of the conus terminalis, which is the distal bulbous part of the spinal cord at the location where the spinal cord tapers and ends (usually between the L1 and L2 lumbar vertebrae).


Abnormal adrenal morphology

Any structural anomaly of the adrenal glands.


Lymph node abscess

An inflammed lymph node that is filled with pus.


Duplicated tragus

A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus.


Facial synkinesis

Unintentional movement in one area of the face produced during intentional movement of another area of the face.


Cholesterol emboli within interlobular vein lumen

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


Cystic nephroma

A benign cystic neoplasm of the kidney.


Absent epiphysis of the middle phalanx of the 3rd finger

Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger.


Curved phalanges of the 4th finger

Curved appearance of the phalanges of the 4th (ring) finger.


Generalized abnormality of skin

An abnormality of the skin that is not localized to any one particular region.


Impaired vibration sensation at ankles

A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles.


Panacinar emphysema

Panacinar emphysema involves all portions of the acinus and secondary pulmonary lobule more or less uniformly. It predominates in the lower lobes and is the form of emphysema associated with1-antitrypsin deficiency. CT scans show a generalized decrease of the lung parenchyma with a decrease in the caliber of blood vessels in the affected lung. Severe panacinar emphysema may coexist and merge with severe centrilobular emphysema. The appearance of feature less decreased attenuation may be indistinguishable from severe constrictive obliterative bronchiolitis.


EEG with photoparoxysmal response grade I

Occurrence of epileptiform discharges in occipital regions during photic stimulation.


Abnormal RV/TLC ratio

Any deviation from the normal ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography.


Nasal chondritis

Inflammation of the cartilage of the nose.


Trident pelvis

Spurs at the medial and lateral acetabular margin and in the center of the acetabulum gives rise to shape resembling a three-pronged spear known as trident.


Abnormality of neutrophil physiology

A functional abnormality of neutrophils.


Thalamic edema

Swelling within the thalamus due to the accumulation of fluid.


Restrictive behavior

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


Hypertryptophanemia

An increased amount of tryptophan in the blood.


Aplasia/Hypoplasia of the triceps

Absence or underdevelopment of the triceps muscle.


Delayed early-childhood social milestone development

A failure to meet one or more age-related milestones of social behavior.


Abnormal gastrointestinal transit time

A deviation from the normal amount of time required for food to pass through the intestines.


Absent TSH response to thyrotrophin-releasing hormone stimulation test

Failure to increase serum TSH levels in response to a TRH stimulation test.


Brachioradialis hyperreflexia

Increased intensity of the brachioradialis reflex.


Ivory epiphyses of the 3rd toe

Epiphyses of the 3rd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.


Abnormal neck blood vessel morphology

An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck.


Thickened glomerular basement membranes with electron dense deposits


Abnormal proportion of class-switched memory B cells

A deviation of the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM-/IgD-) in circulation relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.


Lower thoracic kyphosis

Over curvature of the lower thoracic region, leading to a round back or if sever to a hump.


Myeloschisis

The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane.


Abnormality of the common coagulation pathway

An abnormality of blood coagulation, common pathway.


Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count

A deviation from the normal count of CD4-positive, CD25-positive, alpha-beta regulatory T cells.


Absent cremaster reflex

Lack of response to scratching of the skin of the medial thigh, which in males normally elicits a brisk, short elevation of the ipsilateral testis, a phenomenon that is referred to as the cremaster reflex.


Palate telangiectasia

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


Oral cavity telangiectasia

Presence of telangiectases in the oral cavity.


Mosaic attenuation pattern on pulmonary HRCT

A patchwork of intermingled areas of increased and decreased attenuation visualized on pulmonary high-resolution computed tomography.


Subluxation of the proximal interphalangeal joint of the little finger

A partial dislocation of the proximal interphalangeal joint of the little finger.


Truncal titubation

Tremor of the trunk in an anterior-posterior plane at 3-4 Hz.


Advanced ossification of the hand bones

Ossification of hand bones at an earlier age than normal.


Increased circulating purine concentration

Abnormally elevated concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring.


Abnormal hand cortical bone morphology

An anomaly of the outer shell (cortex) of a hand bone.


Decreased circulating progesterone

An reduced concentration of progesterone in the blood.


Tracheal rupture

A break or tear in the trachea.


Abnormal circulating enzyme concentration or activity

Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation.


Anti-GT1a IgG antibody positivity

The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside.


Polysplenia

Polysplenia is a congenital disease manifested by multiple small accessory spleens.


Alkalemia

An abnormally high blood pH (usually defined as 7.41 or above).


Intestinal lymphoid nodular hyperplasia

A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine.


Chronic neutropenia

Neutropenia with an absolute neutrophil count (ANC) less than 1,500,000,000/L lasting for more than 3 months.


Macrovesicular hepatic steatosis

A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes.


Enlarged epiphysis of the middle phalanx of the 4th toe


Abnormal finger phalanx morphology

Abnormalities affecting the phalanx of finger.


Glomerular amyloid subepithelial deposits

A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).


Small pituitary gland

An abnormally decreased size of the pituitary gland.


Increased proportion of HLA DR+ T cells

An elevated proportion of T cells that express human leukocyte antigen (HLA)-DR. HLA-DR is an MHC class II cell surface receptor that presents antigens (peptides of at least 9 amino acids), thereby constituting a ligand for the T-cell receptor. HLA-DR can be upregulated in response to immune stimulation.


Ulnar bowing

Bending of the diaphysis (shaft) of the ulna.


Abnormal lingual artery morphology

Any structural abnormality of a lingual artery.


atransferrinemia

Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.


Myelin tomacula

The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage).


Granulomatous arteriolitis of the arteriolar intima/media

A type of renal intimal/medial arteriolitis characteriezed by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries.


Visceral epithelial cell hyperplasia

Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium.


Agenesis of first permanent molar tooth

Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both.


Focal impaired awareness autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena

A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by impaired awareness at some point during the seizure.


Abnormality of the epiphyses of the feet

Any abnormality of the epiphyses of the feet.


Metabolic ketoacidosis

A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake.


Cervical spine instability

An abnormal lack of stability of the cervical spine.


Bacterial cell casts

A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection.


spondyloepimetaphyseal dysplasia, Strudwick type

A spondyloepimetaphyseal dysplasia characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).


Reduced collaborative play

Impairment in a child's ability to be able to play in a way that involves peer collaboration. Collaborative play involves things such as verbal and non-verbal communication (e.g., self-initiated interactions), turn-taking, sharing, reciprocity, and collaborative problem-solving. It is often contrasted to parallel play, which involves a form of social play in which two children do similar activities near each other and often mimic each other. Typically developing children develop collaborative play between the ages of 4 and 5.


Anti-Iglon5 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against immunoglobulin-like cell adhesion molecule 5 (IgLON5).


Gastrointestinal duplication

A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus.


Abnormal morphology of the proximal phalanx of the 3rd toe

An anomaly of the proximal phalanx of third toe.


Abnormal respiratory epithelium morphology

Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi.


Absent metacarpal epiphyses

Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals.


Pulmonary capillary angioectasia

Focal accumulation of dilated pulmonary capillaries.


Glomerular proteinuria

A type of proteinuria characterized by increased permeability of the glomerular capillary wall to macromolecules (particularly albumin), whereby protein excretion can reach 20 g/24 h and consists mainly of albumin.


Long thumb

Length of the thumb is greater than normal.


Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Dagger-shaped pulp calcifications

Dagger-shaped calcifications in the dental pulp.


Kommerell diverticulum

Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture.


Ectopic respiratory mucosa

Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations.


Abnormal humeral ossification

An anomaly of the process of formation of bone in the humerus.


Abnormality of the epiphysis of the 5th metacarpal

Any abnormality of the epiphysis of the fifth metacarpal bone.


alobar holoprosencephaly

Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure.


Metaphyseal irregularity

Irregularity of the normally smooth surface of the metaphyses.


Segmentally thickened glomerular basement membrane

Prominent glomerular basement membrane (GBM) reflecting a segmental and increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals.


Glomerular parietal epithelial cell hyperplasia

Increased number of parietal epithelial cells lining Bowman's capsule. Hyperplasia leads to the cells being present in 2 or more layers, often with crowding and multilayering.


Colonic diverticula

The presence of multiple diverticula of the colon.


Abnormal cellular immune system morphology

An abnormality of the morphology or counts of the cells that make up the immune system.


Abnormal coronary artery origin

Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries.


Visual sensory seeking

Pursuit visual stimulation by looking at specific sights, images, and/or colors that is abnormal in intensity and/or frequency.


Interosseus muscle atrophy

Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones.


Focal cognitive seizure with memory impairment

A focal cognitive seizure characterized by transient memory impairment as the initial semiological manifestation whilst other cognitive functions and awareness are preserved at seizure onset. The memory impairment may be an inability to recall events occurring prior to the seizure (retrograde amnesia), or failure to encode new memories for events occurring during the seizure (anterograde amnesia).


Nodular septal thickening on pulmonary HRCT

Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a nodular or beaded appearance of the interlobular septa.


Impaired proprioception

A loss or impairment of the sensation of the relative position of parts of the body and joint position.


Sclerosis of the middle phalanx of the 4th toe


Internal notch of the femoral head

A small V-shaped indentation on the internal aspect of the femoral head. This feature is well illustrated in Figure 5 of PMID:11694546.


Duplication of thumb phalanx

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


Hepatopulmonary fusion

Fusion of the liver with the lung.


Vaginal hernia

The presence of a hernia of the vagina.


regional odontodysplasia

Regional odontodysplasia (ROD) is a localized developmental anomaly of the dental tissues.


Abnormal hip bone morphology

An abnormality of the hip bone.


Pancreatic hypoplasia

Hypoplasia of the pancreas.


Abnormal autonomic nervous system morphology

A structural abnormality of the autonomic nervous system.


Focal cognitive seizure with dissociation

A focal cognitive seizure characterized by an experience of being disconnected from, though aware of, self or environment as the initial semiological manifestation.


Widened cerebral subarachnoid space

An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum.


Middle cerebral artery stenosis

Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery.


Decreased circulating aspartic acid concentration

An reduced concentration of aspartic acid in the blood circulation.


Distal sensory impairment

An abnormal reduction in sensation in the distal portions of the extremities.


Elevated CSF fumarate concentration

An increased concentration of fumarate, an intermediate in the citric acid cycle, in the cebrebrospinal fluid.


Lytic defects in metaphyses of the upper limbs


Renal interstitial hemosiderin

Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney.


Narrow nasal bridge

Decreased width of the bony bridge of the nose.


Sclerosis of hallux phalanx

An elevation in bone density in one or more phalanges of the big toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Recurrent bronchiolitis

An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis.


Elevated circulating deoxypyridinoline concentration

An increased concentration of lysyl-pyridinoline (deoxypyridinoline) cross-links in the blood circulation.


Pseudoepiphysis of the proximal phalanx of the 2nd toe

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


Intercrural pterygium

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


Absent facial hair

Absence of facial hair.


Bifid humerus

Clefting affecting the humerus.


Mozart ear

A congenital auricular deformity, which is mainly characterized by a bulging appearance of the anterosuperior portion of the auricle, a convexly protruded cavum conchae, and a slit-like narrowing of the orifice of the external auditory meatus.


Abnormal muscle physiology

A functional abnormality of a skeletal muscle.


Additional crus of antihelix

Supernumerary ridge or crus of the ear arising from the antihelix.


Ovotestis

A gonad that contains both ovarian follicles and testicular tubular elements.


Abnormal circulating inhibin level

Any deviation from the normal concentration of inhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone.


Abnormal circulating C-peptide concentration

An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion.


Phantosmia

Perception of an odor in the absence of any stimuli in the surrounding environment that could emit the odor.


Elevated circulating methylmalonylcarnitine concentration

Concentration of methylmalonylcarnitine in the blood circulation above the upper limit of normal.


Aplasia/Hypoplasia of the sacrum

Aplasia or developmental hypoplasia of the sacral bone.


Bullet-shaped distal toe phalanx

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


2,8-dihydroxyadenine crystalluria

The presence of 2,8-dihydroxyadenine crystals in the urine. The crystals appear as round, yellow-brown crystals.


Coarctation of the descending aortic arch

Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta.


Podocyte myelin figures

Lamellated intracytoplasmic lipid inclusions within podocytes.


Spontaneous pain sensation

Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger.


Abnormal bone structure

Any anomaly in the composite material or the layered arrangement of the bony skeleton.


Elevated circulating glycolate concentration

The concentration of glycolate in the blood circulation is above the upper limit of normal.


Spastic tetraparesis

Spastic weakness affecting all four limbs.


Increased level of ribose in CSF

An increase in the level of ribose in the cerebrospinal fluid.


Symphalangism affecting the middle phalanx of the 3rd toe


Increased amyloid beta 40 peptide CSF concentration

An elevation above the normal concentration of amyloid beta 40 peptide in the cerebrospinal fluid (CSF).


Decreased circulating androstenedione concentration

Reduced concentration of androstenedione in the blood circulation.


Alcohol-induced rhabdomyolysis

Rhabdomyolysis induced by intake of alcohol.


Small basal ganglia

Decreased size of the basal ganglia.


Short 4th metacarpal

Short fourth metacarpal bone.


Papillary cystadenoma of the epididymis

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


Peau d'orange

Swelling and dimpling of the surface of the skin, which is typically associated with carcinoma of the breast.


Proximal radial head dislocation

A dislocation of the head of the radius from its socket in the elbow joint in an proximal direction.


Renal arteriole medial atrophy

Atrophy (wasting, decreased thickness) of of the middle layer of the arterioles of the kidney.


Generalized-onset epileptic spasm

A type of epileptic spasm of generalized onset.


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against contactin-associated protein-like 2 (CASPR2).


Punding

Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects.


Frontalis muscle weakness

Reduced strength of the frontalis muscle (which is located on the forehead).


seizures-intellectual disability due to hydroxylysinuria syndrome

Seizures-intellectual disability due to hydroxylysinuria syndrome is characterized by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient.


Addictive sex behavior

Inability to control or manage sexual urges, fantasies, or behaviors that impair one's ability to function.


Progressive intervertebral space narrowing

A progressive form of decreased height of the intervertebral disk.


Aplasia/hypoplasia of the proximal phalanx of the 3rd toe

Absence (agenesis) or underdevelopment of the proximal phalanx of the 3rd toe.


Celiac artery dissection

A separation (dissection) of the layers of the celiac artery wall.


Increased circulating arachidonic acid concentration

An increased circulation of arachidonic acid in the blood circulation.


Urinary bladder neurofibroma

A neurofibroma (benign peripheral nerve sheath tumor) located in the urinary bladder.


Abnormal fourth toe morphology

An anomaly of the fourth toe.


Severe expressive language delay

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


Right aortic arch with retroesophageal diverticulum of Kommerell

Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch.


Abnormality of the premaxilla

An abnormality of the premaxilla, the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate.


Distal upper limb muscle weakness

Reduced strength of the distal musculature of the arms.


Prenatal movement abnormality

An abnormality of fetal movement.


Abnormal natural killer cell physiology

A functional anomaly of the natural killer cell.


Abnormal large intestinal mucosa morphology

A structural anomaly of the mucous lining of the large intestine.


Cortical radial artery medial/intimal arteriitis

Inflammation of a the intima or the entire wall of cortical radial arteries (also known as the interlobular arteries) of the kidney.


Limited knee flexion/extension

A limited ability of the knee joint to perform extension and flexion.


Focal hypointensity of cerebral white matter on MRI


Elevated circulating hexacosanoic acid concentration

Elevated concentration of hexacosanoic acid (a C26 straight-chain saturated fatty acid) in the blood circulation.


Focal aware emotional seizure with laughing

Focal emotional seizure with laughing in which awareness is retained throughout.


Moderate receptive language delay

A moderate delay in the acquisition of the ability to understand the speech of others.


Common atrium

Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections.


Bracket epiphysis of the middle phalanx of the 3rd finger

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


Enlarged epiphysis of the distal phalanx of the 3rd toe


Abnormal pulmonary fissure morphology

An abnormal form or number of the pulmonary fissures.


Deviated nasal tip

Nasal tip positioned to one side of the midline.


Specific learning disability

Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.


Neurodevelopmental delay

Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems.


Calcaneovalgus deformity

This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus).


spasmodic dystonia

A chronic voice disorder characterized by momentary periods of uncontrolled spasms of the muscles of the larynx.


Increased glucagon level

An elevated concentration of glucagon in the blood circulation.


Bile duct proliferation

Proliferative changes of the bile ducts.


colpocephaly

Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken.


Large carpal bones

Increased size of carpal bones.


scapuloperoneal myopathy

A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm.


Primary microcephaly

Head circumference below 2 standard deviations below the mean for age and gender at birth.


Abnormal acetabulum morphology

An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint.


High nonceruloplasmin-bound serum copper

An increased concentration of non ceruloplasmin bound copper in the blood.


Abnormality of procerus muscle

An abnormality of a procerus.


odontogenic neoplasm

A benign or malignant neoplasm arising from tooth-forming tissues. It occurs in the maxillofacial skeleton or the gingiva. Benign tumors are slow growing and are not associated with specific clinical symptoms. Pain is absent or slight. Malignant tumors are usually associated with rapid swelling and pain.


Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells

An abnormally increased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.


Enlarged thumb epiphysis

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


Glabellar reflex

A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign.


Left superior vena cava draining to coronary sinus

A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence.


Neonatal bilateral symmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body symmetrically.


Complete duplication of the proximal phalanx of the 4th toe


Gastric hypertrophy

Hypertrophy of the stomach.


EEG with generalized polymorphic epileptiform discharges

Generalized epileptiform discharges of different shapes and frequencies.


hypothyroidism, congenital, nongoitrous, 2

A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13.


Decreased circulating 12-HETE

A reduction in the concentration of 12-HETE in the blood circulation, a metabolite of arachidonic acid.


Mesangial Immune complex deposition

Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit.


Absent lanugo

Lack of development of lanugo, the fine, soft, unpigmented hair on the body of a fetus or newborn baby.


Anti-neurofascin 186 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF186.


Increased proportion of naive B cells

An elevation above the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.


Anomalous origin of the left anterior descending artery from the pulmonary artery

The left anterior descending artery (LAD) branches off from the pulmonary artery.


Abnormality of the sphenoid sinus

An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone.


Abnormal liver function tests during pregnancy


Duplication of the phalanges of the 2nd toe

Partial or complete duplication of a phalanx of second toe.


Increased serum estrone

An elevation above normal limits of the concentration of estrone in the circulation.


Focal impaired awareness sensory seizure with auditory features

A focal sensory seizure with auditory features in which awareness is partially or fully impaired at some point during the seizure.


Focal aware hyperkinetic seizure

A type of focal hypermotor seizure during which awareness is fully retained throughout.


Antigliadin antibody positivity

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


Intrahepatic bile duct cysts

The presence of cyst of the intrahepatic bile duct.


Abnormal ciliary motility

Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions.


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

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


central nervous system primitive neuroectodermal neoplasm

A neuroectodermal tumor that involves the central nervous system.


Abnormal pulmonary valve physiology

Any functional anomaly of the pumonary valve.


Nervous tissue neoplasm

A neoplasm derived from nervous tissue (not necessarily a neoplasm located in the nervous system).


Abnormality of the epiphyses of the 5th finger

Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger.


Abnormal hippocampus morphology

Any structural anomaly of the hippocampus,


Abnormal ankle morphology

A structural anomaly of the ankle.


Supernumerary spleens

The presence of two or more accessory spleens.


Abnormality of the internal auditory canal

An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse.


Decreased serum estrone

A reduction below normal limits of the concentration of estrone in the circulation.


Confusional arousal

A nocturnal episode is characterized by disorientation, grogginess, and, at times, significant agitation upon awakening from slow-wave sleep or following forced awakenings.


Medullary peritubular capillary erythrocyte congestion

Substantially increased numbers of red blood cells within capillaries surrounding tubules in the medulla of the kidney. This feature is assessed in histological images as the presence of numerous erythrocytes in a segment of the capillary such that the vessel appears to be congested (not open).


Abnormality of toe proximal phalanx

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


Cleavage at junction of stratum corneum and stratum granulosum

Splitting of the skin (cell-cell adhesion of keratinocytes) localized to the interface betweem the stratum corneum and stratum granulosum layers of the epidermis.


Moderate to late preterm birth

Birth at 32 to 36 completed weeks of gestation.


Upper limb undergrowth

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


Bilateral symmetric neonatal sequential seizure

Symmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting symmetrically but with a variety of clinical and electrographic signs.


Abnormal peristalsis

An anomaly of the wave-like muscle contractions of the digestive tract.


Multifocal splenic abscess

Multiple abscess lesions in the spleen.


EEG with spike-wave complexes (2.5-3.5 Hz)

The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG).


Generalized osteosclerosis

An abnormal increase of bone mineral density with generalized involvement of the skeleton.


Libman-Sacks lesions

Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve.


Discolored lateral incisors

The presence of discolored lateral incisors.


Stippling of the epiphyses of the proximal phalanges of the hand


Focal cognitive seizure with deja vu/jamais vu

A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation.


Short middle phalanx of the 4th toe

Developmental hypoplasia of the middle phalanx of fourth toe.


Slender middle phalanx of finger

Reduced diameter of the middle phalanx of finger.


Decreased circulating gonadotropin concentration

A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).


Aplasia/Hypoplasia of the middle ear

Aplasia or developmental hypoplasia of all or part of the middle ear.


Adult onset sensorineural hearing impairment

The presence of sensorineural deafness with late onset.


Temporal lobe megalencephaly

Expansion of the temporal lobes of the brain along all axes, including rostrocaudal, superoinferior, and mediolateral, resulting in a globular appearance of the brain.


Club-shaped proximal femur

An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis.


Duodenal gastrinoma

A gastrinoma, a neuroendocrine tumors characterized by the secretion of gastrin with resultant excessive gastric acid production, that is localized to the duodenum.


Face of the giant panda sign

The face of the giant panda sign on T2-weighted MRI is characterized by preservation of normal signal intensity in the red nuclei and lateral portion of the pars reticulata of the substantia nigra, high signal in the tegmentum, and hypointensity of the superior colliculus. The findings are said to resemble the face of a giant panda.


Focal clonic seizure

A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.


levocardia

A condition where the heart is in the correct anatomic position but some or all of the other thoracoabdominal viscera are in the opposite lateral orientation.


Imbalanced hemoglobin synthesis

Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia.


Absent epiphysis of the proximal phalanx of the 3rd finger

Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger.


Shoulder pain

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder.


Cortical radial artery intraluminal organized thrombi

Thrombi containing fibrous tissue and capillary-like vascular channels within the interior space of cortical radial arteries (interlobular arteries) of the kidney.


verruciform xanthoma of skin

A rare, benign wart-like skin lesion of unknown etiology that is usually found in the genital or perianal area and consists of hyperkeratosis and aggregates of foam cell macrophages.


cocaine dependence

A psychologically and socially impaired state, with or without physiological changes, that develops as a result of using cocaine and which leads to compulsive behaviors to acquire the substance.


placenta accreta

The clinical condition in which any part of the placenta invades and is inseparable from the uterine wall. (reVITALize)


Narrow nose

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


Focal epileptiform discharges with limited propagation to contralateral hemisphere

Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization.


eclampsia

A potentially life-threatening pregnancy-related disorder characterized by tonic-clonic seizures in association with hypertension after the twentieth week of gestation and up to six weeks postpartum and in the absence of other potential causes of seizures.


Elevated circulating 3-methyl-2-oxovaleric acid concentration

The concentration of 3-methyl-2-oxovaleric acidin the blood circulation is above the upper limit of normal.


Abnormality of the first metatarsal bone

An anomaly of the first metatarsal bone.


Elevated urinary N,N-dimethylglycine level

An increased concentration of N,N-dimethylglycine in the urine.


Abnormal lymph node cell composition

A deviation from the normal distribution of cell types or their relative proprotions in a lymph node.


Osteolytic defects of the proximal phalanx of the 2nd toe


choanal atresia

Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction.


Decreased CSF histidine concentration

Abnormally decreased levels of histidine in cerebrospinal fluid.


Hepatic bridging fibrosis

Hepatic fibrosis that reaches from a portal area to another portal area.


Tented upper lip vermilion

Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base.


Reduced CSF dopamine concentration

Decreased concentration of dopamine in the cerebrospinal fluid (CSF).


Food-induced anaphylaxis

Food-induced anaphylaxis is a severe, potentially fatal, systemic allergic reaction that occurs suddenly after contact with an allergy-causing food.


Pulmonary venous hypertension

An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension.


Increased blood folate concentration

An elevated circulating concentration of folic acid, which is also known as vitamin B9.


Happy demeanor

A conspicuously happy disposition, characterized by frequent smiling and laughing, which may be contextually inappropriate or unrelated to the situation.


Abnormality of B cell physiology

An abnormality of the physiological functioning of B cells.


Disseminated nontuberculous mycobacterial infection

An infection with nontuberculous mycobacteria that affects multiple body sites. Such infections can occur in individuals with immune disease.


Contracture of the distal interphalangeal joint of the 3rd finger

Chronic loss of joint motion of the distal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue.


Fulminant hepatic failure

Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver.


brachydactyly type A4

Brachydactyly type A4 (BDA4) is a congenital malformation characterized by brachymesophalangy affecting mainly the 2nd and the 5th digit.


Tracheal duplication cyst

A cyst in the trachea, whose wall is made up by tissue similar to the bronchial tree, including cartilage and smooth muscle, and is lined by secretory respiratory epithelium composed of cuboid or columnar ciliated epithelium.


Jaw claudication

Pain in the jaw or ear induced by chewing or otherwise moving the jaw.


Abnormal spinal meningeal morphology

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


Cellular crescent

A type of glomerular crescent characterized by extracapillary hypercellularity of greater than two cell layers and involving more than 10% of the capsular circumference, composed of greater than 75% cells with or without fibrin, and less than 25% fibrous matrix.


Chronic furunculosis

A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection.


EEG with frontal focal spike waves

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


Recurrent infections

Increased susceptibility to infections.


Renal interstitial hemorrhage

A focal collection of 20 or more red blood cells within the interstitium, that is irregular in shape (i.e., collections do not conform to the shape of tubules or capillary networks), without surrounding endothelium or tubular epithelium, and is in an area of intact core.


Cone-shaped epiphysis of the proximal phalanx of the hallux


Shortening of all distal phalanges of the toes

Abnormally short distal phalanx of toe of all toes.


Ivory epiphysis of the proximal phalanx of the 4th finger

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


supratentorial primitive neuroectodermal tumor

A central nervous system embryonal tumor, not otherwise specified arising from the supratentorial region.


Pituitary calcification

Deposition of calcium salts in the pituitary gland.


Vaginal pruritus

A sensation of itching in the vagina.


Decreased iduronate sulfatase level

An decreased level of iduronate-2-sulfatase activity in the blood circulation.


Abnormality of the lower urinary tract

An abnormality of the lower urinary tract.


Aplasia cutis congenita over the scalp vertex

A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline.


Distal peripheral sensory neuropathy

Peripheral sensory neuropathy affecting primarily distal sensation.


Impaired leukocyte adhesion

During states of inflammation, white blood cells (leukocytes) play a key role in maintaining tissue homeostasis through elimination of pathogens and removal of damaged tissue. Leukocytes migrate to the site of inflammation by crawling over and through the blood vessel wall, into the tissue. This term refers to a defect in the attachment of leukocytes to the blood vessel wall, which is a key step required before they can pass through gaps of the endothelial cells of the blood vessel wall to migrate to the site of inflammation.


EEG with parietal epileptiform discharges

Focal epileptiform EEG discharges recorded in the parietal region.


Brain xanthomatosis

Lipid deposits localized within the brain. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.


Focal impaired awareness autonomic seizure with hypoventilation/hyperventilation/altered respiration

An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by impaired awareness at some point during the seizure.


Straight clavicles

An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved .


Triangular shaped phalanges of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Abnormal oral mucosa morphology

Abnormality of the oral mucosa.


Tiger tail banding

An abnormal appearance of hair under polarizing microscopy (using crossed polarizers), whereby hair shafts show striking alternating bright and dark bands, often referred to as tiger tail banding.


Eating-induced seizure

A seizure precipitated by aspects of anticipating food, eating itself, or the post-prandial period.


Focal aware sensory seizure with vestibular features

A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation.


Abnormal cortical gyration

An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain.


Clinodactyly of the 4th toe

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


Laryngeal mass

A lump in the region of the larynx. A mass is any lump in the body that can be caused by the abnormal growth of cells, a cyst, hormonal changes or an immune reaction. Typically a mass is an initial finding that will lead to additional workup. Laryngeal masses can be visualized by multiple methods include computed tomography.


Abnormality of the distal phalanx of the 5th toe


Prominent xiphoid process

Increased prominence of the xiphoid process of the sternum.


Cerebral inclusion bodies

Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain.


Cochlear aplasia

Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect.


Bilateral conductive hearing impairment

A bilateral type of conductive hearing impairment.


Double aortic arch

A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor).


Exercise-induced hemolysis

A form of hemolytic anemia that can be triggered by exertion.


Nail-biting

Habitual biting of one's own fingernails.


Patellar dislocation

The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.


Humeroulnar synostosis

An abnormal osseous union (fusion) between the ulna and the humerus.


Short toe

A toe that appears disproportionately short compared to the foot.


Bullet-shaped proximal phalanx of the 4th toe

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


Pseudoepiphyses of the proximal phalanges of the hand

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


Hyperactive renin-angiotensin system

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


Calcium phosphate nephrolithiasis

The presence of calcium- and phosphate-containing calculi (stones) in the kidneys.


Muscular subvalvular aortic stenosis

A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract.


Absent phalangeal crease

Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers).


Sclerosis of the proximal phalanx of the 4th toe


Metaphyseal enchondromatosis

An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins.


Abnormal tricuspid valve physiology

Any functional defect of the tricuspid valve.


Complete cleft hard palate

Cleft hard palate in which the cleft goes through the entire length of the hard palate.


Persistent fever

Fever that persists longer than expected for an acute infectious disease. No precise threshold exists, and the clinical interpretation of fever is context-dependent, but as a rule of thumb, this term refers to fever that persists longer than 2-3 weeks.


Enlarged epiphysis of the proximal phalanx of the 3rd toe


Fragmentation of the epiphyses of the distal phalanges of the hand


Split nail

A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature.


Elevated red cell adenosine deaminase activity

Increase in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.


Curved distal phalanx of the 3rd toe

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


Abnormality of artery of lower lip

An abnormality of an artery of lower lip.


Myoclonic tremor

A tremor-like cortical myoclonus. The tremulous movements are in fact small, high-frequency myoclonic jerks, induced by posture or action. They can be mild, but can also be more incapacitating. When present in the lower limbs, these may lead to gait disorders and even drop attacks. These tremor-like movements during action can be mistaken for essential tremor or epileptic seizures.


Abnormal alpha granule content

A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor.


Chronic decreased circulating IgG3

A lasting decrease of immunoglobulin G3 (IgG3) in the blood.


Abnormal blood folate concentration

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


Transient decreased circulating IgG4

A temporary reduction beneath the normal level of total immunoglobulin G4 (IgG4) in the blood circulation.


Supracardiac total anomalous pulmonary venous connection

Type 1 total anomalous pulmonary venous connection.


Reduced forced expiratory volume in one second

An abnormal reduction in the amount of air a person can forcefully expel in one second.


Reduced circulating growth hormone concentration

Concentration of growth hormone in the blood circulation below normal limits.


Anemia due to reduced life span of red cells

A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days.


pseudohypoparathyroidism

Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP).


Abnormal HDL3c concentration

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


Hypomanganesemia

A reduction below the normal concentration of manganese in the blood.


Decreased pre-bronchodilator forced expiratory flow 25-75%

A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed before the administration of a bronchodilating medication.


Abnormal oral glucose tolerance

An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose.


Pancreatic calcification

The presence of abnormal calcium deposition lesions in the pancreas.


Leukocyte inclusion bodies

The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in leukocytes.


Autonomic epileptic aura

An autonomic epileptic aura is a purely subjective manifestation of an epileptic seizure pertaining to autonomic nervous system function. Autonomic auras include cardiorespiratory (e.g., palpitations and shortness of breath), gastrointestinal, genitourinary (genital sensations, urinary urge), and cutaneous (feeling of warmth or cold) sensations. Abdominal auras constitute the most common type of autonomic aura. These include sensations of nausea, pain, or indescribable discomfort in the abdominal or periumbilical area that can be static, rise to the chest and throat, or descend into the lower abdominal region.


Smooth philtrum

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


Recurrent respiratory infections

An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.


Abnormal fear-induced behavior

An abnormal fear-induced behavior includes observable actions. This behavior is characterized by abnormal responses to fear or abnormal fear levels. Examples of such behavior include avoiding fear-inducing situations.


Cortical thickening of the forearm bones


Homocitrullinuria

An increased amount of L-homocitrulline in the urine. L-homocitrulline is an L-lysine derivative that is L-lysine having a carbamoyl group at the N(6)-position. It is found in individuals with urea cycle disorders.


Decreased circulating T4 concentration

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


Oropharyngeal squamous papilloma

A benign exophytic neoplasm that arises from the oropharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium [NCI thesaurus].


Cervical spinal canal stenosis

An abnormal narrowing of the cervical spinal canal.


Hypermobility of toe joints

An ability of the toe joints to move beyond their normal range of motion.


Type I cryptotia

A type of cryptotia associated with reduction in size of the antihelix and superior crus.


Small intestinal polyposis

The presence of multiple polyps in the small intestine.


Passive dorsiflexion of the 5th finger more than 90 degrees

An abnormally increased ability to bend (dorsiflex) one's fifth finger. To assess this feature, the examiner requests to proband to extend the elbows,to bend the wrist back so that it forms a ninety degree angle to the forearm, and to extend the fingers. Then, the proband is requested to bend the fifth finger back as far as is possible without discomfort. If the angle of the fifth finger exceeds 90 degrees, this is considered to be abnormal.


Chronic disseminated intravascular coagulation

A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced.


Stippling of thumb epiphysis

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


Excessive fire setting

The inability to control urges of deliberately setting fires for pleasure and gratification, without any criminal intent.


Abnormality of the respiratory system

An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.


Refractory status epilepticus

Refractory status epilepticus is defined as status epilepticus continuing despite two appropriately selected and dosed antiepileptic drugs, including a benzodiazepine.


autosomal dominant prognathism

Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion).


Abnormality of the elbow

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


Spoken word recognition deficit

Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus.


Hemihypertrophy of lower limb

Overgrowth of only one leg.


Increased level of galactitol in plasma

An increase in the level of galactitol in the plasma.


Periventricular ribbonlike heterotopia

Heterotopia that forms a continuous wavy line along the ventricular wall.


Inflammatory cap polyp

A non-malignant sessile or pedunculated polyp in the colon and rectum that displays a cap of inflammatory granulation tissue with fibrinopurulent exudate that covers the polyp.


Abnormal fetal cardiovascular physiology

Abnormal functionality of the fetal cardiovascular system.


inherited torticollis

A congenital benign lesion that occurs in the distal sternocleidomastoid muscle of infants. It is characterized by the presence of plump spindle cells, and collagenous stroma formation.


Recurrent pharyngitis

An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis.


Fibro-obliterative bile-duct lesion

A condition in which the lumen of a bile duct has been filled by fibrous scar material, in effect replacing the bile duct with a fibrous scar.


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

An abnormal proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.


Abnormal urine urobilinogen level

An abnormal concentration of urobilinogen in the urine.


Abnormal dental morphology

An abnormality of the morphology of the tooth.


Pulmonary paraglioma

A rare paranglioma of the lung, tumors that arise from extra-adrenal chromaffin cells.


46,XY complete gonadal dysgenesis

46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.


Bruxism during sleep

Bruxism is a condition in which you grind, gnash, or clench your teeth while asleep.


Intranuclear cardiomyocyte mitochondria

Abnormal localization of mitochondria within the nuclei of cardiomyocytes.


Pleural cyst

A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance.


Anti-GM1 IgM antibody positivity

The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GM1.


meningioma

A generally slow growing tumor attached to the dura mater. It is composed of neoplastic meningothelial (arachnoidal) cells. It typically occurs in adults, often women and it has a wide range of histopathological appearances. Of the various subtypes, meningothelial, fibrous and transitional meningiomas are the most common. Most meningiomas are WHO grade I tumors, and some are WHO grade II or III tumors. Most subtypes share a common clinical behavior, although some subtypes are more likely to recur and follow a more aggressive clinical course. (Adapted from WHO)


Postcoital vaginal bleeding

Postcoital bleeding (PCB) consists of spotting or bleeding after sexual intercourse that is not related to a person's menstrual cycle.


Respiratory insufficiency due to defective ciliary clearance


Gingival fragility

Gums that are easily damaged.


Abnormal immunoglobulin level

An abnormal deviation from normal levels of immunoglobulins in blood.


Intermediate atrioventricular canal defect

A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices.


Large iliac wing

Increased size of the ilium ala.


Abnormal cystatin C level

Any deviation from the normal concentration of cystatin C in serum or plasma.


Perinuclear cardiomyocyte vacuolization

Formation of vacuoles, i.e., membrane-bound organelles, in the portion of the cytoplasm near the nucleus within myocytes of the heart.


Slow-growing scalp hair

Scalp hair whose growth is slower than normal.


Abnormality of the biliary system

An abnormality of the biliary system.


Tetralogy of Fallot with pulmonary atresia

An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries.


Prominent nose

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


Infantile hydrocele

Infantile Hydrocele is a type pf hydrocele in which the processus vaginalis gets obliterated at the level of the deep inguinal ring. However, the portion distal to it remains patent and allows fluid accumulation.


Obstructive shock

A type of shock characterized by inadequate cardiac preload due to obstructed venous return (e.g. pericardial tamponade, tension pneumothorax, abdominal compartment) or obstruction of arterial blood flow (e.g. pulmonary embolism).


Impaired renal tubular reabsorption of magnesium

Decreased renal tubular reabsorption of magnesium.


Short dental root

Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length.


Triangular epiphysis of the distal phalanx of the 5th finger

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


Absent epiphysis of the middle phalanx of the 5th toe


Tetraplegia/tetraparesis

Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength.


Flattened proximal radial epiphyses

An abnormally flat form of the proximal epiphysis of the radius.


Elevated circulating tiglylcarnitine concentration

Concentration of tiglylcarnitine (C5:1) in the blood circulation above the upper limit of normal.


Absent epiphysis of the distal phalanx of the 5th toe


Decreased CD69 upregulation upon TCR activation

Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR).


Abnormal dental pulp morphology

An abnormality of the dental pulp.


Decreased glucagon level

A reduced concentration of glucagon in the blood circulation.


Complete duplication of the proximal phalanx of the hallux

Complete duplication of the proximal phalanx of big toe.


Reduced circulating C-reactive protein concecntration

An abnormal decrease of the C-reactive protein level in serum.


Thickened helices

Increased thickness of the helix of the ear.


Beevor's sign

Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus.


pituitary hypoplasia

Incomplete development of the pituitary gland.


Lop ear

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


EEG with frontal sharp waves

EEG with sharp waves in the frontal region, i.e., sharp transient waves of a duration between 80 and 200 msec.


Bilateral tonic-clonic seizure on awakening

Bilateral tonic-clonic seizure of either generalized or focal onset occurring on or soon after wakening (typically within 90 minutes of waking, regardless of the time of day).


Leucinuria

Increased level of leucine in urine.


Partial anosmia

Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants).


Short first metatarsal

Short first metatarsal bone.


Glomerular capillary wall duplication with cellular interposition

Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix with interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM.


Tree-in-bud pattern

The tree-in-bud pattern represents centrilobular branching structures that resemble a budding tree. The pattern reflects a spectrum of endo- and peribronchiolar disorders, including mucoid impaction, inflammation, and/or fibrosis (See Figure 70 of PMID:18195376).


Lethal short-trunk short stature

A type of disproportionate short stature characterized by a short trunk but a average-sized limbs that is lethal at birth.


Aortic rupture

Tearing of the aortic wall generally associated with profuse internal bleeding.


Thin clavicles

Abnormally reduced diameter (cross section) of the clavicles.


Increased circulating dehydroepiandrosterone-sulfate concentration

Concentration of dehydroepiandrosterone-sulfate in the blood circulation above the upper limit of normal.


Fragile nails

Nails that easily break.


Apical pulmonary opacity

An apical cap is a caplike lesion at the lung apex, usually caused by intrapulmonary and pleural fibrosis pulling down extrapleural fat or possibly by chronic ischemia resulting in hyaline plaque formation on the visceral pleura. The prevalence increases with age. It can also be seen in hematoma resulting from aortic rupture or in other fluid collection associated with infection or tumor, either outside the parietal pleura or loculated within the pleural space.


Abnormality of the immune system

An abnormality of the immune system.


Abnormal gallbladder morphology

A structural anomaly of the gallbladder.


Neoplasm of the anterior pituitary

A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.


Abnormally low T cell receptor excision circle level

Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells.


Complete cleft soft palate

Cleft soft palate in which the cleft goes through the entire length of the soft palate.


Abnormal liver metabolite concentration

The concentration of a metabolite in the liver is above or below the limits of normal.


Absent tonsils

Lack of observable tonsillar tissue.


Renal interstitial granulomas

Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present.


Gastric arteriovenous malformation

An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the stomach.


episodic ataxia type 1

Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.


Hypoplastic frontal sinuses

Underdevelopment of frontal sinus.


Hepatic periportal necrosis

A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein.


Complete duplication of the 1st metatarsal

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


Stippling of the epiphyses of the 3rd toe

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd toe.


Elevated circulating dihydrouracil concentration

An increased concentration of dihydrouracil in the blood circulation. Dihydrouracil is an intermediate in the catabolism of uracil that is also known as 5,6-dihydrouracil.


Partial diaphragmatic absence of pericardium

Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart.


Abnormal jugular vein morphology

Any structural abnormality of a jugular vein.


Dimple chin

A persistent midline depression of the skin over the fat pad of the chin.


Abnormality of the spinocerebellar tracts

An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract.


Widened greater sciatic notch

The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a increase in the lateral dimension of the notch.


Abnormal response to gonadotropin-releasing hormone stimulation test

An abnormal response to the gonadotropin-releasing hormone (GnRH) stimulation test. This test typically involves intravenous administration of GnRH followed by repeated blood sampling at various time points to measure the levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH).


Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Complete breech presentation

A kind of breech presentation in which the hips are flexed and the knees are flexed.


Ivory epiphysis of the distal phalanx of the 2nd toe


Anasarca

An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space.


Increased circulating mead acid level

An abnormally elevated concentration od mead acid in the blood circulation.


Decreased proportion of naive T cells

An abnormally decreased proportion of naive T cells relative to the total number of T cells.


Anti-voltage-gated potassium channel antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against a voltage-gated potassium channel.


Abnormality of the auditory canal

An abnormality of the External acoustic tube (also known as the auditory canal).


Bracket epiphysis of the 1st metatarsal

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


Fractured distal tarsal bone 2

A partial or complete breakage of the distal tarsal bone 2.


Abnormal number of hair whorls

More than two clockwise hair whorls.


Triangular epiphyses of the 4th finger

A triangular appearance of the epiphyses of the 4th finger of the hand.


The presence of autoantibodies in the blood circulation that react against myeloperoxidase.


Bilateral triphalangeal thumbs

A bilateral form of triphalangeal thumb.


Abnormal interest in others

A social interest in others that is abnormal given the social context. This can include an increased interest with another person or an abnormal lack of interest in other people.


Cardiac hemangioma

Abnormal proliferation of blood vessels within the cardiac cavities attached to the endocardium.


Aplasia/Hypoplasia of facial bones

A developmental defect characterized by absence or underdevelopment of one or more facial bone.


Distal aortic arch hypoplasia

A type of aortic arch hypoplasia whereby the distal aortic arch (arch distal to the ductus arteriosus) has a diameter of less than 60% of the diameter of the ascending aorta.


Focal impaired awareness sensory seizure with vestibular features

A focal sensory seizure with vestibular features in which awareness is partially or fully impaired at some point during the seizure.


Weakness due to upper motor neuron dysfunction

Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons.


Renal juxtaglomerular cell hypertrophy/hyperplasia

Increased number and size of the juxtaglomerular cells.


Proximal humeral metaphyseal irregularity

Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder).


Patchy sclerosis of the middle phalanx of the 5th toe

Uneven increase in bone density of the middle phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.


Fingernail dysplasia

An abnormality of the development of the fingernails.


Bowed forearm bones

A bending or abnormal curvature affecting either the radius, the ulna, or both.


Increased CSF glutamate concentration

Abnormally increased levels of glutamic acid in cerebrospinal fluid.


Horseshoe lung

A horseshoe lung is an uncommon congenital abnormality caused by the partial fusion of the bases of both lungs behind the pericardial sac.


T2 hypointense basal ganglia

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


Bronchial atresia

A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis.


Focal cognitive seizure with dyslexia/alexia

A focal cognitive seizure characterized by dyslexia / alexia as the initial semiological manifestation.


Midshaft hypospadias

Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis.


Abnormal oligodendroglia morphology

One of the three types of glia cells that, with the nerve cells, compose the central nervous system and are characterized by sheetlike processes that wrap around individual axons to form the myelin sheath of nerve fibers.


Short distal phalanx of the 3rd toe

Developmental hypoplasia of the distal phalanx of third toe.


Bilateral apical pulmonary fibrosis

A reticular pattern of linear or lineonodular densities in apical portions of both the right and left lungs seen initially on high-resolution computed tomography and in case of progression also on standard chest x-ray.


Decreased CSF protein concentration

CSF total protein level is below the lower limit of normal.


Increased urinary non-proteinogenic amino acid level

An increased level in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.


Patchy sclerosis of the proximal phalanx of the 4th finger

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


Fractured acetabular part of hip bone

A partial or complete breakage of the acetabular part of hip bone.


otitis media, susceptibility to

Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.


Abnormal vertebral morphology

An abnormality of one or more of the vertebrae.


Prolonged P wave

Abnormal increased in the duration of the P wave, which is a marker of delayed inter-atrial conduction.


Myoclonic status epilepticus with coma

A type of myoclonic status epilepticus in the presence of coma.


Irregular epiphysis of the middle phalanx of the 5th toe


anti-LAD-1 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against LAD-1, which is the soluble 120 kDa ectodomain of BP180.


Absent epiphysis of the 1st metatarsal

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


Posttussive emesis

Vomiting following a coughing spell.


Curved middle phalanx of the 4th toe

A deviation from the normal straight form of the middle phalanx of the fourth toe.


ariboflavinosis

A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed)


brachydactyly type A2

Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger.


Alpha-aminoadipic aciduria

The concentration of alpha-aminoadipic acid in the urine, normalized for urine concentration, is above the upper limit of normal.


Abnormal liver lobulation

Formation of abnormal lobules (small masses of tissue) in the liver.


Decreased QRS voltage

Reduced amplitude (height) of the QRS complex of the electrocardiogram (EKG), defined as amplitudes of all the QRS complexes in the limb leads are less than 5 mm or amplitudes of all the QRS complexes in the precordial leads less than 10 mm.


Abnormality of serum cytokine level

Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells.


Linear earlobe crease

A transverse linear fissure (crease) in the lobule of the ear.


Increased proportion of unswitched memory B cells

An increase above the normal proportion of non-class-switched memory B cells relative to the total number of B cells.


Arcuate vein intraluminal thrombi

Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate veins of the kidney.


Hyperglutaminuria

An increased concentration of glutamine in the urine.


histiocytoid cardiomyopathy

Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterized by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.


metaphyseal chondrodysplasia

An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae.


Impaired glucose tolerance

An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose.


Abnormal platelet morphology

An anomaly in platelet form, ultrastructure, or intracellular organelles.


Finger pain

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the finger.


1-4 toe syndactyly

Syndactyly with fusion of toes one to four.


transient hypogammaglobulinemia of infancy

A rare, primary humoral immunodeficiency of childhood characterized by decreasing serum levels of immunoglobulin G (IgG) as maternal antibodies clear the circulation while serum levels of immunoglobulin A and immunoglobulin M remain normal or are slightly decreased. Diagnosis may be suspected after the age of six months when a child's own synthesis of IgG should accelerate but it must be confirmed retrospectively after normalization of all serum immunoglobulin levels is seen by ages 2-6. This disorder may be caused by inadequate activation of progenitor B cells, defective class-switching or may even represent a maturational variant. Typically, a normal response to protein antigens is found while there is a notably diminished response to viral and bacterial polysaccharide antigens. Clinical presentation may include recurrent infections especially those of the respiratory tract. Despite increased susceptibility to infection in childhood, this disorder is self-limited with minimal implications for a normal life span.


Dairy allergy

Hypersensitivity in form of an adverse immune reaction against dairy.


Intracranial dermoid cyst

A congenital inclusion cysts that arises from the inclusion of ectodermally committed cells at the time of neural tube closure (3rd-5th week of embryogenesis). The capsule of dermoid cysts consists of simple epithelium supported by collagen. In thicker parts, the lining is supplemented with dermis containing hair follicles, sebaceous glands, and apocrine glands.


Bowing of the long bones

A bending or abnormal curvature of a long bone.


Absent toe

Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues.


Parotid gland adenocarcinoma

An adenocarcinoma that arises from the parotid gland.


Bull's eye rash

A cutaneous eruption that consists of multiple (at least two) concentric erythematous rings.


Abnormal drug response

An anomalous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy.


Dental crowding

Changes in alignment of teeth in the dental arch


Paroxysmal dyskinesia

Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks.


Upper limb muscle hypoplasia

Underdevelopment of muscles of the arm.


Short 5th metacarpal

Short fifth metacarpal bone.


Central nervous system axonal spheroid

Axonal spheroids are bubble-like biological features that form on most degenerating axons. During neurodegeneration, bubble-like swellings form along the length of the axon, a primary and early effect of dynamic axonal deformation. These varicosities, spheroids, or swellings have been described as beads on a string and branches bearing fruit, and they frequently appear on degenerating axons. The focal swellings on degenerating axons, axonal spheroids, are often filled with cellular debris such as organelles, pathological proteins, and disorganized cytoskeletal elements.


Narrow palm

For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length.


Impaired toe-walking ability

Difficulty or reduced ability to walk on toes. Toe-walking can be tested as a part of the neurological examination. Foot plantar flexion weakness leads to difficulties in walking on toes.


Small epiphysis of the distal phalanx of the 5th toe


Transient erythroblastopenia

A transient reduction in the number of erythroblasts in the circulation.