Anti-HLA-B antibody positivity

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


Absent epiphysis of the proximal phalanx of the thumb

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


Reduced prothrombin consumption

The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia.


Intellectual disability, borderline

Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85.


superficial spreading melanoma

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A type of melanoma that typically occurs in light-skinned individuals ranging in age from young adults to the elderly. Risk factors include extensive sun exposure during childhood, a family history of melanoma, and the presence of dysplastic nevi.


Fusiform aortic arch aneurysm

A concentric abnormal localized widening (dilatation) of the aortic arch that involves the full circumference of the vessel wall.


Fractured elbow joint

A partial or complete breakage of the elbow joint.


Osteolysis involving bones of the upper limbs


Anti-SOX1 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SOX1. Anti-SOX1 antibodies, also known as antiglial nuclear antibody (AGNA), are specifically found in paraneoplastic neurological disorders. Since SOX1 is expressed in neuronal precursor cells in the developing central nervous system, it has been used as an early marker of neural stem cells.


Ventilator dependence with inability to wean


teeth, fused

The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch.


Bronchial artery hypertrophy

Increase in the volume of bronchial artery wall due to the enlargement of its component cells.


Recurrent herpes

Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus.


Lemon sign

The lemon sign refers to the shape of the fetal skull at ultrasonography (US) when the frontal bones lose their normal convex contour and appear flattened or inwardly scalloped. This gives the skull a shape that is said to resemble a lemon.. The sign is seen on transverse sonograms of the fetal cranium obtained at the level of the ventricles.


Facet joint arthrosis

Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray.


Focal absence of the external ear

Absence of a localized portion of the ear that cannot be described by a more precise term (e.g., absent ear lobe).


cervical rib disease

A rib that is attached to a cervical vertebra or enlarged transverse processes.


familial congenital mirror movements

Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected.


congenital vertical talus

Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus.


Fibular duplication

Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition.


Abnormal periosteum morphology

An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones.


Cortical radial artery lymphocyte hypercellularity

A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of cortical radial arteries.


Granulomatous coronary arteritis

Inflammation of the coronary arteries involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells.


Generalized hypertrichosis

Generalized excessive, abnormal hairiness.


commissural facial cleft

Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)


bifid nose

Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated.


Fractured distal tarsal bone 3

A partial or complete breakage of the distal tarsal bone 3.


Pelvic 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 pelvis.


Subependymal cysts

Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life.


Abnormality of the scalp hair

An abnormality of the hair of head.


Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine

The inability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination.


Impaired annexin V binding to platelet phosphatidylserine

Reduced binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry.


Portal inflammation

Infiltration of portal fields by inflammatory cells.


Cessation of head growth

Stagnation of head growth seen as flattening of the head circumference curve.


Facial hyperostosis

Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton.


Chronic partially decreased circulating IgG1

A lasting limited decrease of immunoglobulin G1 (IgG1) in the blood.


2-4 toe syndactyly

Syndactyly with fusion of toes two to four.


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


Rightward direction of ventricular apex

Abnormal plane of direction of the heart from the base to the apex towards the right. Left sided is normal.


Small epiphysis of the distal phalanx of the 3rd finger

Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms.


trigonocephaly

Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.


Progressive sclerosis of skull base

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


Anti-beta 2 glycoprotein I antibody positivity

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


Elevated alkaline phosphatase of renal origin

An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.


Abnormality of the stapes

An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear.


Premature loss of primary teeth

Loss of the primary (also known as deciduous) teeth before the usual age.


Decreased peak expiratory flow

A reduction in the maximum expiratory flow per minute, which can be used to measure how fast a subject can exhale as well as to judge the strength of the expiratory muscles and the condition of the large airways.


Focal impaired awareness sensory seizure with gustatory features

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


Decreased number of peripheral myelinated nerve fibers

A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy).


Abnormal circulating fatty-acid concentration

A deviation from the normal concentration of a fatty acid in the blood circulation.


Fractures, Closed

A traumatic break to the bone in which the continuity of the bone has not broken through the skin.


Abnormal cutaneous elastic fiber morphology

Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils.


Abnormality of body weight

An abnormal increase or decrease of weight or an abnormal distribution of mass in the body.


Nocturnal hypoventilation

An abnormal reduction in alveolar ventilation occuring during sleep. This is characterized by a rise in arterial carbon dioxide.


Elbow extension contracture

An elbow contracture that limits the ability of the elbow joint to flex (flexion of the the elbow joint refers to bending the elbow joint to bring the hand closer to the shoulder), meaning that the elbow is fixed in an extended (straight) position.


ornithine aminotransferase deficiency

A very rare inherited retinal dystrophy characterized by progressive chorioretinal atrophy, myopia and early cataract.


Focal aware autonomic seizure with lacrimation


Diastolic heart murmur

A heart murmur that occurs during diastole, i.e., in the time between S2 and the subsequent S1.


Abnormality of facial musculature

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


Hydroxyprolinuria

An increased concentration of 4-hydroxy-L-proline in the urine.


Short metacarpal

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


Anti-centromere protein A antibody positivity

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


Abnormal circulating IgM level

An abnormal deviation from normal levels of IgM immunoglobulin in blood.


Proximal tapering of metacarpals

Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance.


EEG with focal sharp slow waves

EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.


Metatarsal osteolysis

Osteolysis involving metatarsal bones.


Abnormality in emotional social interactions


Microretrognathia

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


Periorificial hyperkeratosis

Scaling and overgrowth of horny tissue of the skin surrounding body orifices (including peri-auricular, peri-oral, peri-anal areas.


Abnormality of the phalanges of the 2nd finger

Abnormality of the phalanges of the 2nd (index) finger.


Meningeal calcification

Calcium deposition affecting the Meninges.


Basal ganglia necrosis

Death of cells in the basal ganglia.


Decreased CSF erythritol concentration

A decrease in the level of erythritol in the cerebrospinal fluid.


Abnormal QRS complex

An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram.


Short proximal phalanx of the 4th finger

Hypoplastic/small proximal phalanx of the fourth finger.


Dysmorphic hematuria

The presence of dysmorphic urinary erythrocytes. This feature can be observed by phase-contrastmicroscopy, differential interference microscopy, and bright-field microscopy. The acanthocyte or G1 cell, which is a doughnut-shaped cell with one or more blebs, is reported to constitute a special form of dysmorphic erythro-cyte (D cell) specific for glomerular hematuria.


Chronic cutaneous wound

A cutaneous wound that has failed to proceed through the orderly and timely process to produce an atomic and functional integrity, or proceeded through the repair process without establishing a sustained anatomic and functional result.


Myocardial steatosis

Steatosis in the myocardium.


Abnormality of dental eruption

An abnormality of tooth eruption.


Acroosteolysis of distal phalanges (feet)


Hot water-induced seizure

A seizure precipitated by pouring cupfuls of very hot water (40 to 50 degrees Celsius) in rapid succession over the head. Bathing in this manner is the most common trigger.


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


Decreased proportion of marginal zone B cells

A reduction in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.


Prominent palatine ridges

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


Cerebellar dysplasia

Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts.


Symphalangism of middle phalanx of finger

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


Hypertrophy of the upper limb

Abnormal increase in size of the upper limbs (due to an increase of the size of cells).


Anti-dsDNA antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA.


Abnormal response to corticotropin releasing hormone stimulation test

An anomalous response to the corticotropin releasing hormone (CRH) stimulation test. Normally,CRH is released by the hypothalamus to induce adrenocorticotropic hormone (ACTH) release by the anterior pituitary. In the stimulation test, CRH is administered intravenously and ACTH and cortisol are measured at intervals.


Invasive dermatophyte infection

Infection that extends deeply into the dermis by dermatophytes, fungi that typically cause different types of superficial infection (tinea) or skin, hair, or nails.


Impaired oral bolus formation

An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed.


Expanded metatarsals with widened medullary cavities


Focal sensory seizure with hot-cold sensations

A seizure characterized by sensations of feeling hot or cold as its first clinical manifestation.


Increased antral follicle count

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


Inspiratory stridor

Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities.


Hypoplastic nasal bone

Length of the nasal bone below a predetermined cut-off as seen on antenatal ultrasound using standard imaging techniques.


Anterolateral radial head dislocation

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


Absent epiphysis of the distal phalanx of the 4th finger

Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger.


Abnormal skull morphology

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


Neoplasm by histology

Neoplasm categorized according to type of histological abnormality.


Abnormal renal arteriole lumen morphology

Abnormal structural characteristics of the interior space (lumen) of renal arterioles.


Impaired lymphocyte transformation with phytohemagglutinin

Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes.


Flexion contracture of the 4th toe

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


Abnormal regional left ventricular contraction

A wall motion abnormality observed upon left ventricular contraction that affects a specific region of the left ventricle.


Abnormal proportion of CD4-positive helper T cells

An abnormal proportion of circulating CD4-positive helper T cells relative to total T cell count.


Abnormal CSF glutamate concentration

Any deviation from the normal concentration of glutamic acid in the cerebrospinal fluid.


Flaky paint dermatosis

A dermatosis characterized by generalized shiny, enamel-like, hyperpigmented scales in an irregular pattern. The scales may peel or desquamate, rather like old, sun-baked blistered paint, often with areas of underlying hypopigmentation. This has led to the terms peeling paint or flaky paint dermatosis (See the Figure in PMID:24285001).


immunodeficiency due to selective anti-polysaccharide antibody deficiency

Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR).


Abnormal ulnar metaphysis morphology

Any structural abnormality of the portion of the ulna between the epiphysis and the diaphysis.


Tongue tremor

An unintentional, oscillating to-and-fro muscle movement affecting the tongue.


Abnormal prostate morphology

An abnormality of the prostate.


Fascicular left ventricular tachycardia

A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG).


Impaired renal tubular reabsorption of uric acid

Decreased renal tubular reabsorption of uric acid.


Neck muscle hypoplasia

Underdevelopment of muscles of the neck.


Focal cognitive seizure

A focal cognitive seizure involves an alteration in a cognitive function (which can be a deficit or a positive phenomenon such as forced thought), which occurs at seizure onset. To be classified as a focal cognitive seizure, the change in cognitive function should be specific and out of proportion to other relatively unimpaired aspects of cognition, because all cognition is impaired in a focal impaired awareness seizure.


A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone.


Eosinophilic lymph node infiltration

Presence of an elevated number of eosinophils in a lymph node (usually as demonstrated by lymph node biopsy).


EEG with generalized spikes

EEG with generalized sharp transient waves of a duration less than 80 msec.


Paroxysmal sneezing

Unprovoked explosive pathological sneezing.


Renal interstitial foam cells

Accumulation of foam cells (FC) in the interstitium of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles.


Decreased circulating total IgA

Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L).


Tactile hypersensitivity

A decreased tolerance to physical touch.


Abnormal ear physiology

Any functional anomaly of the ear.


Calcium oxalate crystalluria

The presence of calcium oxalate crystals in the urine.


Abnormal vaginal bleeding

Abnormal vaginal bleeding occurs between menstrual periods, after sex, or after menopause. Menstrual periods that are heavier or last longer than usual or last more than seven days also are considered abnormal.


Left ventricular dilatation

Enlargement of the chamber of the left heart ventricle.


Degeneration of the lateral corticospinal tracts

Deterioration of the tissues of the lateral corticospinal tracts.


Long hallux

Increased length of the big toe.


Retractile testis

A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex.


Partial absence of specific antibody response to unconjugated pneumococcus vaccine

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


Fatigable weakness of distal limb muscles

A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.


Abnormality of the distal phalanx of the 2nd toe


Recurrent patellar dislocation

Patellar dislocation occurring repeated times.


Allantoic cyst

A swelling formed at the base of umbilicus associated with a patent urachus which results from an allantoic remnant. The urachus is a fibrous remnant of the allantois which communicates from the apex of the urinary bladder to the umbilicus. Failed obliteration of the urachus can lead to various abnormalities: urachal cyst, urachal diverticulum, sinus or patent urachus - the most common type. Allantoic cysts in infants with patent urachus can be formed due to the drainage of urine into the umbilical cord, or in uncommon situations, after leakage of hypo-osmotic urine into the Wharton's jelly.


Antalgic gait

To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position.


Tremor by anatomical site

Tremor classified by the affected body part.


amelogenesis imperfecta

Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body.


Thin toenail

Toenail that appears thin when viewed on end.


Middle cerebral artery calcification

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


Esophageal exudate

An exudate is a mass of fluid and cells that has seeped out of blood vessels or an organ, usually related to inflammation. In the esophagus, exudates usually present as whitish plagues on the surface of the esophageal mucosa.


Distal/middle symphalangism of 5th finger

Fusion of the terminal/distal and middle phalanges of the 5th finger.


Unilateral perisylvian polymicrogyria

A type of perisylvian polymicrogyria that largely affects one side of the brain.


Macular hypopigmented whorls, streaks, and patches


Curved 1st metatarsal

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


Abnormality of the middle phalanx of the 4th toe


Inappropriate behavior

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


Descending thoracic aorta aneurysm

An abnormal localized widening (dilatation) of the descending thoracic aorta.


Cerebral dysmyelination

Defective structure and function of myelin sheaths of the white matter of the brain.


Cortical radial artery intima/media necrosis

Cell death (necrosis) in the inner or middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.


Focal cognitive seizure with neglect

A focal cognitive seizure characterized by neglect as the initial semiological manifestation.


Arteriosclerosis of small cerebral arteries

Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain.


Abnormal transferrin saturation

Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity.


Starch intolerance

An inability to digest starch.


Small epiphysis of the proximal phalanx of the 2nd toe


Palmomental reflex

A type of primitive reflex characterized by an involuntary contraction of the mentalis muscle of the chin caused by stimulation of the thenar eminence of the palm.


Delayed ability to walk

A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.


EEG with generalized slow activity grade 3

Generalized slowing of EEG activity at frequencies between 0.5-3 Hz.


Abnormal T3/T4 ratio

A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal.


Anterior cerebral artery stenosis

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


Generalized non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically generalized. It is a prolonged absence seizure.


Abnormality of T cell physiology

A functional anomaly of T cells.


Decreased HDL2b concentration

A reduction below the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm.


Absent epiphyses of the toes

Absence of the epiphyses of the phalanges of the toes.


fused mandibular incisors

Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia and an increased risk of pulp exposure.


Focal motor status epilepticus

Status epilepticus with focal motor signs originating within networks limited to one hemisphere. Involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.


apnea, central sleep

The periodic cessation of breathing while asleep that occurs secondary to the decreased responsiveness of the respiratory center of the brain to carbon dioxide, resulting in alternating cycles of apnea and hyperpnea.


Increased level of carnosine in blood

An increased amount of carnosine in the blood.


Aplasia/hypoplasia of the proximal phalanx of the 5th toe

Absence (agenesis) or underdevelopment of the proximal phalanx of the 5th toe.


Splenic cyst

A closed sac located in the spleen.


Decreased circulating plasmalogen concentration

Reduced plasmalogen concentration in the blood circulation.


Pseudo-chilblains on fingers

Inflammatory chilblain-like nodules on the hands and/or fingers.


Right unicoronal synostosis

Unicoronal synostosis affecting only the right coronal suture.


Craniofacial teratoma

A teratoma located in the craniofacial region.


radial heads, posterior dislocation of

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


Abnormal morphology of the proximal phalanx of the 4th toe


False perception of self-motion

A perception that one's body is moving or swaying despite lack of motion of the body.


multinodular goiter

Nodular goiter characterized by more than one discrete tissue mass.


Camptodactyly of toe

Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.


Exercise-induced myoglobinuria

Presence of myoglobin in the urine following exercise.


Ageusia

A rare condition that is characterized by a complete loss of taste function of the tongue.


Sub-lamina densa cleavage

A type of blistering in which the cleavage plane of blisters is located below the lamina densa.


Abnormal lacrimal artery morphology

An abnormality of a lacrimal artery.


Acrokeratosis

Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet.


Aplasia/Hypoplasia of the liver

Absence or underdevelopment of the liver.


Facial hypotonia

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


Abnormal circulating serine family amino acid concentration

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


Abnormality of pancreas physiology

An anomaly of the function of the pancreas.


Recurrent streptococcus pneumoniae infections

Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae.


neurodegenerative syndrome due to cerebral folate transport deficiency

A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite.


Bounding pulse

Increased amplitude (strength) of the pulse.


Swan neck-like deformities of the fingers

A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke.


Chronic noninfectious lymphadenopathy

A chronic form of lymphadenopathy that is not related to infection.


Small epiphyses of the proximal phalanges of the hand


fibromatosis

A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern.


Congenital goiter

An enlargement of the thyroid gland with congenital onset.


Focal hemiclonic seizure

A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset.


Perifollicular erythema

Redness surrounding the hair follicles.


Spinal canal stenosis

An abnormal narrowing of the spinal canal.


perinatal lethal hypophosphatasia

A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.


Duplication of phalanx of hand

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


Underdeveloped antitragus

Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.


Serinuria

A increased concentration of serine in the urine.


Decreased glucose-6-phosphate dehydrogenase level in dried blood spot

A decrease in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.


Absent soft palate

A developmental defect characterized by lack of a soft palate.


Elevated erythrocyte adenosine triphosphate concentration

Concentration of adenosine triphosphate (ATP) in red blood cells (erythrocytes) above the upper limit of normal.


Abnormality of femur morphology

Any anomaly of the structure of the femur.


Abnormal shape of the frontal region

An abnormal shape of the frontal part of the head.


Short nasal bridge

Decreased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose.


Abnormality of the malleus

An abnormality of the malleus, an ossicle in the middle ear.


Abnormal CSF/serum albumin ratio

A deviation from the normal range of the ratio of the albumin concentration in the cerebrospinal fluid (CSF) to the concentration in serum (which may be defined as 3.2-9.0). This is an index of blood-brain barrier (BBB) integrity, adjusted for the serum albumin concentration, and an increased ratio is taken as a sign of a loss of integrity of the BBB with leakage of albumin into the CSF.


Malignant rhabdoid tumor of liver

A malginant rhabdoid tumor (MRT) originating in the liver. MRT are best characterized by the presence of round or polygonal cells with abundant eosinophilic cytoplasm, typical eosinophilic perinuclear inclusions, vesicular nuclei and prominent nucleoli. Immunohistochemical expression of vimentin and epithelial markers and lack of staining for S-100, myoglobin and desmin are commonly found, but are non-specific.


Complete or near-complete absence of specific antibody response to hepatitis B vaccine

The inability to synthesize postvaccination antibodies against a hepatisis B antigen, as measured by antibody titer determination following vaccination.


Speech articulation difficulties

Impairment in the physical production of speech sounds.


bladder exstrophy

Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall.


Irregular phalanges

Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance.


Alternating radiolucent and radiodense metaphyseal lines

Areas of radio-opaque sclerotic bands alternating with those of normal lucency give rise to stripes akin to a zebra.


Insect allergy

Hypersensitivity in form of an adverse immune reaction against insects.


dental pulp calcification

Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies.


Abnormality of the pubic hair

Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty.


Thoracoabdominal ectopia cordis

Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and displacement partially into the abdominal cavity.


Auricular tag

Small protrusion within the pinna.


Hypoplasia of the capital femoral epiphysis

Underdevelopment of the proximal epiphysis of the femur.


Expanded terminal portion of crus of helix

Widening, rather than tapering, of the crus at its posterior border near the antihelix.


Abnormal femoral head morphology

An abnormality of the femoral head.


Fair hair

A lesser degree of hair pigmentation than would otherwise be expected.


oculo-auriculo-vertebral spectrum

A congenital birth defect characterized by incomplete development or absence of face structures, usually affecting one side of the face. The defects include partially formed or absent ear, nose, lip, mandible, and/or soft palate.


Renal interstitial mononuclear cell infiltration

Presence of interstitial mononuclear leukocytes, i.e., white blood ceclls with a single round nucleus, including lymphocytes and monocytes but not including granulocytes (which have multilobed nuclei).


Periventricular heterotopia

A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass.


Abnormality of the diencephalon

An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain.


Recurrent sinusitis

A recurrent form of sinusitis.


Triangular shaped middle phalanx of the 4th finger

Triangular shaped middle phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Triangular shaped middle phalanx of the 2nd toe


Facial hemangioma

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


Abnormality of the amniotic fluid

Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus.


Elevated circulating osteopontin level

Abnormally increased level of osteopontin in the blood circulation


Aortic isthmus hypoplasia

A type of aortic arch hypoplasia whereby the isthmus (arch between the left subclavian and insertion of the patent ductus arteriosus/ligamentum arteriosum) has a diameter of less than 40% of the diameter of the ascending aorta.


Thickened intrahepatic portal venules

Increased width of the vascular wall of portal venules within the liver.


Common origin of the right brachiocephalic artery and left common carotid artery

The left common carotid artery has a common origin with the innominate artery.


Ulnar claw

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


Elevated circulating thyroid-stimulating hormone concentration

Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation.


Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal


androgenetic alopecia

Absence of hair in the anterior midline and/or parietal areas.


Abnormal paranasal sinus morphology

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


panhypopituitarism

Insufficient production of all the anterior pituitary hormones.


Genu valgum

The legs angle inward, such that the knees are close together and the ankles far apart.


Indurated nodule

A skin nodule that is unusually hard (indurated).


Aplasia/Hypoplasia of the distal phalanx of the 3rd finger


Superior cerebellar dysplasia

Abnormal morphological development of the superior part of the cerebellum.


Pelvic girdle muscle weakness

Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis.


Asymmetry of the mouth

The presence of an asymmetric mouth.


Clonal T cell receptor rearrangement

Presence of a predominant T cell clone. In PCR-based assays, this finding is inferred on the basis of one or two prominent bands within a valid size range. In NGS-based assays, this finding is inferred on the basis of a high number of reads that map to a single T cell receptor clone.


Hypersegmentation of neutrophil nuclei in CSF

An excessive division of the lobes of the nucleus of a neutrophil in the cerebrospinal fluid.


Mild fetal ventriculomegaly

A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (PMID:16100637).


Sprengel deformity

A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).


Abnormal right ventricular function

Anomalous physiology (function) of the right ventricle.


ependymoblastoma

Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis.


Curved proximal phalanx of the 3rd toe

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


Impaired pain sensation

Reduced ability to perceive painful stimuli.


Abnormality of the diaphragm

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


Brachytelomesophalangy

Disproportionately short middle and distal phalanges compared to the hand/foot.


Radial deviation of the hand

An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb).


Anti-thyroid peroxidase antibody positivity

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


Exercise-induced lactic acidemia

A form of lactic acidemia that occurs following exercise or exertion.


Liver hamartoma

A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the liver.


Ivory epiphysis of the middle phalanx of the 4th finger

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


A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia.


Abnormal circulating gonadotropin concentration

An anomaly 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).


Abnormal circulating eicosanoid concentration

Any deviation from the normal concentration in the blood circulation of an icosanoid (also known as eicosanoids). These are signaling molecules derived from oxidation of 20-carbon fatty acids. Most are produced from arachidonic acid, a 20-carbon polyunsaturated fatty acid (5,8,11,14-eicosatetraenoic acid).


Increased anti-drug IgE antibody level

Increased level of IgE antibody against a drug or class of drugs, such as antibiotics.


Extension contracture of finger

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


Conical incisor

An abnormal conical morphology of the incisor tooth.


Abnormal CSF tyrosine concentration

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


Paratracheal lymphadenopathy

Enlargement of lymph nodes surrounding the trachea.


Abnormal hair whorl

An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair).


Abnormal mandibular ramus morphology

An abnormality of a mandibular ramus.


Medial calcification of medium-sized arteries

Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries.


Episodic abdominal pain

An intermittent form of abdominal pain.


Waddling gait

Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.


Partial duplication of the distal phalanx of the hallux


Increased CSF leucine concentration

Abnormally increased levels of leucine in cerebrospinal fluid.


Abnormal alpha-beta T cell morphology

A structuraly anomaly of T cells that express an alpha-beta T cell receptor.


Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot

An anomaly in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.


Decreased CSF valine concentration

Any decreased amount from normal of valine in the cerebrospinal fluid.


Halberd-shaped pelvis

An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle).


Nezelof syndrome

Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination.


Agenesis of putamen

A developmental defect characterized by the absence of the putamen owing to its failure to develop.


Hypodysplasia of the corpus callosum

Developmental defect characterized by a small and malformed corpus callosum.


Anti-signal recognition particle antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against anti-signal recognition particle.


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

Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger.


Neonatal multifocal myoclonic seizure

Neonatal multifocal 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 multiple sites.


Reduced arm span

Decreased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle).


Everted upper lip vermilion

Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip.


Axonal degeneration/regeneration

A pattern of simultaneous degeneration and regeneration of axons (see comment).


Abnormal tongue physiology

Any functional anomaly of the tongue.


Renal intimal/medial arteriolitis

Inflammation of an arteriole of the kidney, which may involve only the intma or can be transmural.


Uric acid crystalluria

The presence of uric acid crystals in the urine.


congenital afibrinogenemia

Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen.


Increased CSF ornithine concentration

Abnormally increased levels of ornithine in cerebrospinal fluid.


Trichodiscoma

A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion.


Tetraphocomelia

Phocomelia involving all four extremities.


Madelung deformity

Madelung disease, or deformity (MD) is a predominantly bilateral wrist anomaly characterized by shortened and bowed radii and long ulnae leading to dorsal dislocation of the distal ulna and limited mobility of the wrist and elbow.


Ovarian serous cystadenoma

A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue.


Univentricular heart with absent left sided atrioventricular connection


Extra concha fold

Folds or ridges within the concha that are distinct from the crus helix.


Increased circulating mannose-binding protein concentration

Concentration of mannose-binding protein in the blood circulation above the upper limit of normal.


Diagonal earlobe crease

Diagonal earlobe creases run from the lower pole of the external meatus, diagonally backwards to the edge of the lobe at approximately 45 degrees.


Reduced bone mineral density

A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.


Renal arteriole neutrophil endoarterial hypercellularity

A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased numbers of neutrophils within the arteriolar lumen.


Decreased circulating IgD

An abnormally decreased level of immunoglobulin D (IgD) in blood.


Complete duplication of the proximal phalanx of the 3rd finger

Complete duplication of the third proximal phalanx of hand.


Impaired stimulus-induced skin wrinkling

A reduced ability of the skin of the fingertips to wrinkle when exposed to stimuli such as soaking in water or application of EMLA cream (the fingertip remains smooth).


Abnormal upper lip morphology

An abnormality of the upper lip.


Triangular epiphysis of the proximal phalanx of the 3rd toe


Double inlet right ventricle

The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic.


proximal symphalangism

Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.


Spontaneous neonatal pneumothorax

Pneumothorax occurring neonatally without traumatic injury to the chest or lung.


right aortic arch

An anatomic abnormality that occurs during embryonic development, in which the aortic arch is right-sided.


Anti-nucleoporin 62 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against nucleoporin 62.


Decreased left ventricular end-diastolic volume

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


motor neuron disorder

A disease involving the motor neuron.


Early onset of sexual maturation

An early onset of puberty, in this case early does not refer to precocious.


Elevated circulating gamma-aminobutyric acid concentration

An increase in the level of Gamma-aminobutyric acid (GABA) in the blood circulation.


Bilateral tonic-clonic seizure with generalized onset

A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterised by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure.


Focal aware autonomic seizure with urge to urinate/defecate

A focal autonomic seizure with urge to urinate / defecate characterized by retained awareness throughout the seizure.


Enlarged epiphysis of the distal phalanx of the 2nd toe


Abnormal corpus striatum morphology

Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens.


Bullet-shaped 1st metatarsal

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


Hypoesthesia

Decreased ability to perceive touch.


Plantar telangiectasia

Telangiectases (small dilated blood vessels) located on the skin of sole of foot.


Focal cortical dysplasia

A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons.


Humeral exostoses

Presence of more than one exostosis originating in one or noth humerus bones. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.


Tonic status epilepticus

Tonic status epilepticus is a type of status epilepticus characterized by focal or bilateral limb stiffening or elevation, which may be electrographically generalized or focal.


Aplasia/Hypoplasia of the distal phalanx of the hallux


Abnormal cervical spine morphology

Any morphological abnormality of the cervical vertebral column.


Cone-shaped epiphysis of the middle phalanx of the 2nd toe


Open mouth

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


Status epilepticus with prominent motor symptoms

Status epilepticus with prominent motor signs during the prolonged seizure.


Monoclonal light chain cardiac amyloidosis

A type of cardiac amyloidosis related to deposition of an immunoglobulin light chain. The current gold standard of amyloid typing is to determine the precursor protein using laser microdissection mass spectrometry.


Mandibular aplasia

Absence of the mandible.


Recurrent viral upper respiratory tract infections

An increased susceptibility to viral upper respiratory tract infections as manifested by a history of recurrent viral upper respiratory tract infections (otitis, sinusitis, pharyngitis, tonsillitis).


Stippling of the epiphyses of the 4th toe

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th toe.


Absent isohemagglutinin level

Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).


Thoracic kyphosis

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


Aplasia of the 2nd finger

Absent 2nd (index) finger.


Distal ulnar hypoplasia

Underdevelopment of the distal portion of the ulna.


Osteolytic defects of the distal phalanx of the hallux


Hypoperistalsis

Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract.


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

A cone-shaped appearance of the epiphysis of the proximal 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.


Focal seizure with eyelid myoclonia

Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures.


Abnormality of the proximal phalanx of the 5th finger

Abnormality of the proximal phalanx of the little (5th) finger.


EEG with temporal focal spikes

EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region.


Patellar aplasia

Absence of the patella.


Criss-cross atrioventricular valves with superior-inferior ventricles

Criss-cross atrioventricular valves with a rare cardiac malformation characterized by the two ventricles lying one above the other instead of side by side.


Superior-inferior ventricles without criss-cross atrioventricular valves


Lipomeningocele

A form of closed neural tube defect in which the spinal tissue lies within the spinal cord having a junction between the spinal cord and the lipoma. Intact skin covers the defect. Neurologic findings first appear during the second year of life.


Euphoria

A sense of intense joy or happiness that is beyond what would be expected under the given circumstances.


Abnormality of the dorsal column of the spinal cord

An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus.


Penoscrotal hypospadias

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


Partial absence of specific antibody response to hepatitis B vaccine

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


EEG with focal sharp waves

EEG with focal sharp transient waves of a duration between 80 and 200 msec.


plexiform neurofibroma

An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.)


Fatigable weakness

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


Head tremor

An unintentional, oscillating to-and-fro muscle movement affecting head movement.


Decreased circulating ceruloplasmin concentration

Decreased concentration of ceruloplasmin in the blood.


Short upper lip

Decreased width of the upper lip.


Prolonged reptilase time

An abnormally increased duration of the reptilase time. Reptilase time is a functional plasma clotting assay, which is based on the enzymatic activity of batroxobin. By specifically cleaving fibrinogen A from fibrinogen, batroxobin leads to the formation of a stable fibrin clot. The time, starting from the addition of batroxobin to the plasma sample, until clot formation is the reptilase time and is given in seconds.


Cortical peritubular capillary intraluminal thrombi

Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the cortex of the kidney.


Anti-HLA-A IgG1 antibody positivity

The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A).


Abnormal umbilical stump bleeding

Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth.


Delayed ability to sit

A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age.


Abnormality of fibrinolysis

Clincial phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis)


Unilateral wrist flexion contracture

A chronic loss of wrist joint motion on one side only.


Bracket epiphysis of the middle phalanx of the 3rd toe


Progressive microcephaly

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


Chronic lymphocytic meningitis

Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF).


Enlarged epiphysis of the proximal phalanx of the 5th toe


Cone-shaped epiphysis of the distal phalanx of the 4th toe


Elevated circulating erythropoietin concentration

Increased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production.


Abnormality of the inner ear

An abnormality of the inner ear.


Reduced plasminogen activator inhibitor 1 antigen

Reduced level of plasminogen activator inhibitor 1 antigen.


Abnormal dense granules

Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium, histamine and serotonin.


Socially innappropriate questionning

A tendency to ask questions that are overly personal or otherwise inappropriate in the social situation in which they are asked.


Tongue telangiectasia

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


Elevated circulating thrombopoietin concentration

Concentration of thrombopoietin in the blood circulation above the upper limit of normal. Thrombopoietin is a glycoprotein hormone produced by the liver and kidney that stimulates the production and differentiation of megakaryocytes.


Short nail

Decreased length of nail.


2-5 finger cutaneous syndactyly

A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints.


Shark teeth

Eruption of permanent teeth behind deciduous (baby) teeth before they have fallen out, resulting in a double row of teeth. This phenomen is typically observed between the ages of 5 to 7 years.


Bullet-shaped toe phalanx

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


Unicornuate uterus

A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn.


Mesangial hypercellularity

Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain.


Hyperplastic colonic polyposis

Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation.


Abnormal reticulocyte morphology

A reticulocyte abnormality.


Absent left main coronary artery

The left main coronary artery (LMCA) is absent and the left anterior descending (LAD) and left circumflex (LCX) arteries arise from separate but adjacent ostia in the left sinus of Valsava.


Abnormal glucose-6-phosphate dehydrogenase level in blood

An anomaly in the level of glucose-6-phosphate dehydrogenase in the blood.


Palmoplantar cutis laxa

Loose, wrinkled skin of hands and feet.


Waxy casts

A type of acellular urinary casts that display a melted wax (waxy) appearance, which gives them a high refractive index. They are frequently dark, with blunt extremities, indented and cracked edges and a large size, which is often several times that of other types of casts.


Kinked brainstem

A kinked appearance of the brainstem, i.e., an exaggerated flexure.


Submucous cleft soft palate

A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue.


Diffusely thickened glomerular basement membrane

Prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform 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.


Abnormal amygdala morphology

A structural anomaly of the amygdala.


aneurysmal bone cyst

A locally aggressive and destructive benign cystic lesion of the bone. It is characterized by the formation of multiloculated hemorrhagic cystic spaces which are separated by fibrous septa. It can arise from any bone, but usually affects the metaphysis of long bones. It manifests with pain and swelling and may recur following curettage.


Facial neoplasm

A tumor (abnormal growth of tissue) of the face.


Cerebellar vermis hypoplasia

Underdevelopment of the vermis of cerebellum.


Cone-shaped epiphyses of the 4th finger

A cone-shaped appearance of the epiphyses of the 4th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.


Septate gallbladder

Septate gallbladder is characterized by the presence of a septum that divides the gallbladder in two chambers. When the septum dividing the gallbladder lies longitudinally it is called bilobed gallbladder and when there is a transverse septum separating the fundus from the rest of the gallbladder it is called an hour-glass gallbladder.


Abnormality of the epiphyses of the 5th toe


Confluent hypointensity of cerebral white matter on MRI


Pelger-Huet anomaly

An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear.


Ivory epiphysis of the distal phalanx of the 2nd finger

Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


Delayed talus ossification

Delayed maturation and calcification of the talus.


Patchy sclerosis of 4th finger phalanx

Uneven increase in bone density of one or more of the phalanges of the fourth (ring) finger.


enthesitis

Inflammation at the site of insertion of ligaments, tendons, and other fibrous structures into bone.


Cortical sclerosis

Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity.


Neonatal bilateral symmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs symmetrically at both sides of the body.


Spinal hypomyelination

Reduced amount of myelin in the spinal cord resulting from defective myelinogenesis.


Meromelia

Partial absence of a free limb (excluding girdle). It can refer to the proximal, middle or distal segment of the upper or lower limb. The deficiency may be transverse or longitudinal. Thus, meromelia is a lack of a part, but not all, of one or more limbs with the presence of a hand or foot.


Abnormality of the anus

Abnormality of the anal canal.


porencephaly

Porencephaly is characterized by a circumscribed intracerebral cavity of variable size that may be bordered by abnormal polymicrogyric grey matter. In extreme cases, this cavity may result in a communication between the pial surface and the ventricle; this is termed schizencephaly.


Stippling of the epiphysis of the proximal phalanx of the hallux

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


Abnormal cartilage morphology

Any morphological abnormality of cartilage.


Hamartomatous stomach polyps

Polyp-like protrusions which are histologically hamartomas located in the stomach.


Serpiginous crus of helix

Curving course of the crus of the helix, approaching or joining the antitragus.


Podocyte foot process effacement

An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier.


Aplasia/Hypoplasia of the 4th metacarpal

Aplasia or Hypoplasia affecting the 4th metacarpal.


Echogenic intracardiac focus

A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart.


Podocyte hypertrophy

Increased visceral epithelial cell size, with or without cytoplasmic protein droplets.


Prolactinoma

A benign tumor (adenoma) of the pituitary gland


Delayed ossification of the trapezoid bone

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


Abnormality of acid-base homeostasis

An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH.


Tubulointerstitial fungal infiltration

Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains.


Fractured proximal epiphysis of middle phalanx of manual digit 3

A partial or complete breakage of the proximal epiphysis of middle phalanx of manual digit 3.


Decreased specific antibody response to vaccination

A reduced ability to synthesize postvaccination antibodies against toxoids and polysaccharides in vaccines, as measured by antibody titer determination following vaccination.


Distal upper limb amyotrophy

Muscular atrophy of distal arm muscles.


Intracranial arterial calcification

An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in an artery that is located within the skull (intracranial).


Anti-Tr/DNER antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Tr/DNER. Anti-Tr antibodies are directed against cerebellar Purkinje cells (termed anti-Tr or PCA-Tr). Anti-Tr autoantibodies are frequently associated with Hodgkin lymphoma (HL). Anti-Tr antibodies are defined by a specific staining pattern in cerebellar tissue that is characterized by punctate immunoreactivity in both the dendritic tree and soma of Purkinje cells but not in their axons. This characteristic pattern is indicative of the presence of anti-Tr antibodies. The Delta/Notch-like epidermal growth factor-related receptor (DNER) was identified as the target antigen of anti-Tr.


Abnormal thalamic size

Deviation from the normal range of size of the thalamus.


Triangular epiphysis of the proximal phalanx of the 2nd finger


Bracket epiphyses of the 4th finger

An abnormality of the fourth 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.


Ski jump nail

Nails that slope upward at the free edge.


Premature occlusive vascular stenosis

Peripheral arterial stenosis with onset before the age of 50 years.


Abnormality of the ductus choledochus

An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder.


Abnormal plantar dermatoglyphics

An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot.


Steppage gait

An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.


Microdontia of primary teeth

Decreased size of the primary teeth.


Abnormal metacarpal morphology

Any abnormal shape or structure of the metacarpal bones.


Lip freckle

Increased focal pigmentation of the vermilion of the lips.


Increased urine neutrophil count

Abnormally increased count of neutrophils in urine.


Focal cognitive seizure with auditory agnosia

A focal cognitive seizure characterized by auditory agnosia as the initial semiological manifestation. For example a person may hear a ringing sound, but may not connect this with the concept that the sound is from a telephone ringing.


Cutaneous macular amyloidosis

A type of cutaneous amyloidosis that is characterized by hyperpigmented patches with indefinite margins composed of grayish brown macules, often with a reticulated or rippled appearance.


Anti-GD1b antibody positivity

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


Hyperxanthinemia

An increased level of xanthine in the blood circulation.


Biliary epithelial hyperplasia

Hyperplasia of lining epithelia of the septal and large bile ducts manifesting as micropapillary projections or as a stratification of the epithelium with or without dilatation of the duct lumen.


Intralobar nephroblastomatosis

Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it).


Febrile seizure outside the age of 3 months to 6 years

Any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38.0 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in people beyond the typical arrange of 3 months-6 years with no prior history of afebrile seizure.


Abnormal glucose homeostasis

Abnormality of glucose homeostasis.


Delayed onset bleeding

Abnormal bleeding related to a procedure or trauma which does not start at the time of the initial insult, but after delay by at least 24 hours.


Abnormal circulating estrogen level

A deviation from normal concentration of the hormone estrogen in the blood circulation.


Lingual dystonia

Involuntary protrusions, movements, spams and contortions of the tongue.


Basal ganglia edema

Swelling within the basal ganglia due to the accumulation of fluid.


Foot oligodactyly

A developmental defect resulting in the presence of fewer than the normal number of toes.


Abnormal hindbrain morphology

An abnormality of the hindbrain, also known as the rhombencephalon.


Absent epiphyses of the phalanges of the hand

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


Abnormal lower lip morphology

An abnormality of the lower lip.


Abnormality of the sense of smell

An anomaly in the ability to perceive and distinguish scents (odors).


Fractured fused sacrum

A partial or complete breakage of the fused sacrum.


High renal tubular epithelial cell N/C ratio

At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei.


Disseminated cutaneous warts

Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities.


Gingival cleft

A fissure in the gingiva (gums), i.e., the mucosal tissue that lies over the mandible and maxilla.


Hypoplasia of the maxilla

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


Partial absence of finger

The absence of a phalangeal segment of a finger.


Abnormal CSF aspartate concentration

Any deviation from the normal concentration of aspartic acid in the cerebrospinal fluid.


Renal necrosis

Cell death (necrosis) affecting one or more parts of the kidney.


spermatogenic failure 6

Any azoospermia in which the cause of the disease is a mutation in the SPATA16 gene.


Reduced radioactive iodine uptake

A decreased amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.


Chronic (near) absent circulating IgG4

A lasting absence of immunoglobulin G4 (IgG4) in the blood, whereby at most trace quantities of IgG4 can be measured.


alopecia totalis

Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous.


Absent pigmentation of chest

Lack of skin pigmentation (coloring) of the chest.


Fetal anemia

Low hemoglobin/hematocrit in a fetus as evidenced by percutaneous umbilical cord sampling and Doppler ultrasonographic assessment of the peak velocity of systolic blood flow in the middle cerebral artery.


Biceps hyporeflexia

Reduced intensity of the biceps tendon reflex.


Decreased circulating membrane cofactor protein concentration

Concentration of membrane cofactor protein in the blood circulation below the lower limit of normal.


Focal bilateral motor seizure

A type of focal motor seizure (it commences in one hemisphere) involving bilateral muscle groups rapidly at seizure onset.


Arthralgia of the hip

Joint pain affecting the hip.


Arcuate artery intraluminal thrombi

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


Focal aware tonic seizure

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


Apical hypertrabeculation of the left ventricle

An increased number and density of the trabeculae in the apex (tip) of the left ventricle.


External tibial torsion

External twisting of the tibia resulting in the toes of each foot pointing outward (outtoeing) .


Pseudoepiphysis of the middle phalanx of the 3rd finger

A secondary ossification center in the middle phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.


Neoplasm of fatty tissue

A tumor (abnormal growth of tissue) of adipose tissue.


neurogenic arthropathy

Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly tabes dorsalis, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)


Basal ganglia calcification

The presence of calcium deposition affecting one or more structures of the basal ganglia.


Adrenal gland dysgenesis

Abnormal development of the adrenal gland.


Sclerosis of middle toe phalanx

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


Limb joint contracture

A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs.


Cortical radial artery leukocyte hypercellularity

A type of cortical radial artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes).


Buried teeth encased in mucopolysaccharide


Bilateral superior vena cava

The presence of a left and a right superior vena cava.


Minifascicle formation

A nerve fascicle or fasciculus is a small bundle of axons, enclosed by the perineurium. A minifascule refers to a group of thinly myelinated and unmyelinated axons surrounded by a delicate perineurium, and with a smaller diameter than a normal nerve fascicle.


Abnormal circulating phytanic acid concentration

Any deviation from the normal concentration of phytanic acid in the blood circulation.


Chronic partially decreased circulating IgG4

A lasting limited decrease of immunoglobulin G4 (IgG4) in the blood.


Increased fetal movement

An abnormal increase in quantity or strength of fetal movements.


goiter, multinodular 1, with or without Sertoli-Leydig cell tumors

Any multinodular goiter in which the cause of the disease is a mutation in the DICER1 gene.


Severe muscular hypotonia

A severe degree of muscular hypotonia characterized by markedly reduced muscle tone.


Poliosis

Circumscribed depigmentation of the hair of the head or the eyelashes.


Fractured mandible

A partial or complete breakage of the mandible.


Increased circulating osteocalcin level

An elevated level of osteocalcin in the blood.


Excessive checking

Checking behavior that is excessive for the situational context.


Incisor macrodontia

Increased size of the incisor tooth.


Ivory epiphysis of the distal phalanx of the hallux


Aplasia/Hypoplasia of the proximal phalanx of the thumb

This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


Aplasia/Hypoplasia involving the carpal bones

Absence or underdevelopment of the carpal bones.


Reduced left ventricular ejection fraction

A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.


Curved proximal phalanx of the 4th toe

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


Abnormal circulating ceruloplasmin concentration

Any deviation of the concentration of ceruloplasmin in the blood from the normal range.


Ectopic anterior pituitary gland

Abnormal anatomic location of the anterior pituitary gland.


Fibular hypoplasia

Underdevelopment of the fibula.


Infantile sensorineural hearing impairment

A form of sensorineural hearing impairment with infantile onset.


Vasa previa

Vasa previa occurs when the membranes that contain the umbilical cord traverse the membranes overlying the internal os of the cervix. There is a high risk of fetal mortality if not identified perinatally.


Activating thyroid-stimulating hormone receptor defect

Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect.


Elevated circulating acetoacetic acid concentration

An increased level of acetoacetic acid in the blood circulation. Acetoacetic acid is one of the predominant ketone bodies.


Juvenile gastrointestinal polyposis

The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps.


Vestibular sensory seeking

Pursuit of vestibular stimulation that is abnormal in intensity and/or frequency.


Abnormal gonadotropin-releasing hormone concentration

A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone (GnRH). Intermittent GnRH secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH).


Unlayered lissencephaly

A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and grey matter.


Giant cell hepatitis

Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver.


Mild intrauterine growth retardation

Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age.


Abnormal nervous system electrophysiology

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


Difficulty walking backward

Reduced ability to walk (ambulate) in a backwards direction.


Bullet-shaped middle phalanx of the 3rd finger

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 middle phalanx of the 3rd finger is affected.


Congenital thrombocytopenia

Thrombocytopenia with congenital onset.


Reduced circulating leukotriene C4 concentration

An abnormally decreased concentration of leukotriene C4 in the blood circulation.


Tracheobronchomalacia

Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways.


Postductal coarctation of the aorta

Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch.


Elevated circulating butyrylcarnitine concentration

Increased concentration of O-butyrylcarnitine in the blood circulation.


Abnormal cardiac MRI

Abnormal results of a MRI for the heart.


Perioral eczema

A type of eczema that occurs in the lips and perioral area.


Positive Romberg sign

The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception.


Abnormal bulbus cordis morphology

Abnormal structure of the bulbus cordis, which is the single outflow tract of the heart during early embryogenesis.


Infection-associated lymphopenia

Decreased lymphocyte count during infections.


Severe albuminuria

The presence of severely increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio greater than 300 mg/gm (greater than 34 mg/mmol).


Corner fracture of metaphysis

Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias.


Elevated CSF glial fibrillary acidic protein concentration

Increased concentration of glial fibrillary acidic protein in cerebrospinal fluid.


Sclerosis of 5th finger phalanx

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


Placenta increta

Abnormal placental pentration into but not beyond the uterine wall.


Blistering by anatomical location

Blistering (presence of multiple fluid filled blisters) categorized according to the body site where they occur.


Femoroacetabular impingement

Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis.


Abnormality of the epiphysis of the femoral head

Any abnormality of the proximal epiphysis of the femur.


Ivory epiphysis of the proximal phalanx of the 2nd finger


Hypolysinemia

A decreased amount of lysine in the blood.


Giant melanosomes in melanocytes

The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes.


Increased neuronal autofluorescent lipopigment

Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.


Hypointensity of cerebral white matter on MRI

A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter.


Focal lissencephaly

A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex.


Abnormal cerebellar peduncle morphology

An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum.


Incomplete unilateral cleft lip

Unilateral cleft lip cleft that starts from the bottom of the upper lip but does not reach the nasal cavity.


Hostility

Persistent or frequent angry feelings; anger or irritability in response to minor slights and insults.


Persistent patent ductus venosus

Persistence of blood flow through the ductus venosus for longer than the normal time after birth.


Elevated circulating 3-methylhistidine concentration

Abnormal increase of the concentration of 3-methylhistidine in the blood circulation.


Ivory epiphyses of the 5th finger

Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


Anti-Su antigen/argonaute 2 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Su antigen/argonaute 2.


Bullet-shaped middle phalanx of the 2nd finger

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 middle phalanx of the 2nd finger is affected.


Positive perchlorate discharge test

An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficient time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate discharge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid.


Abnormal platelet dense granule secretion

Abnormal release of dense granules from platelets.


Spinal meningeal diverticulum

An outpouching of the spinal meninges.


Anti-Kelch like protein 12 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Kelch like protein 12.


Abnormality of the foot musculature

An anomaly of the musculature of foot.


Abnormality of the female genitalia

Abnormality of the female genital system.


Chronic colitis

A chronic inflammatory disease of the large intestine (colon, cecum and rectum).


Hypoglutamatemia

A decreased amount of glutamate in the blood.


schwannoma

A benign, usually encapsulated slow growing tumor composed of Schwann cells. It affects peripheral and cranial nerves. It recurs infrequently and only rare cases associated with malignant transformation have been reported.


Cutaneous abscess

A circumscribed area of pus or necrotic debris in the skin.


Curved 5th toe phalanx

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


Abnormal circulating free T4 concentration

A deviation from the normal concentration of free thyroxine (T4) in the blood circulation. Circulating T4 is almost entirely bound to specific transport proteins such as thyroxine-binding globulin (TBG) but it is the unbound (free) fraction that is able to enter tissues and exert effects.


Mesangial cell loss

Loss of mesangial cells segmentally or globally.


Subcortical dementia

A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change.


Single-lobed right lung

A developmental defect of pulmonary lobation characterized by the presence of only one lobe of the right lung, which normally has three lobes.


Patchy reduction of bone mineral density

Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.


Perineal hypospadias

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


Abnormal blood glucose concentration

An abnormality of the concentration of glucose in the blood.


Abnormal CSF dopamine concentration

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


External genital hypoplasia

Underdevelopment of part or all of the external reproductive organs.


Coronary arteriovenous fistula

An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation.


Small distal femoral epiphysis

Reduced size of the Distal epiphysis of femur.


Increased hemoglobin oxygen affinity

An abnormal increase in the binding affinity of hemoglobin for oxygen.


Glomerular lipoprotein thrombus

Intracapillary silver-positive material that is finely vacuolated and laminated, and stains with oil red O on frozen sections.


chondrodysplasia punctata

A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis.


Thin fingernail

Fingernail that appears thin when viewed on end.


Decreased urinary 1-methylhistidine

Decreased concentration of 1-methylhistidine in the urine.


Abnormal glomerular basement membrane texture

Anomalous appearance or structure of the surface of the glomerular basement membrane.


Overriding atrioventricular valve

An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect.


Soft, doughy skin

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


Narrow internal auditory canal

Reduction in diameter of the internal auditory canal.


Open operculum

Underdevelopment of the operculum.


carotid body paraganglioma

A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia adjacent to or in the bifurcation of the common carotid artery. Most patients present with a slow growing, painless mass in the neck.


The presence of autoantibodies in the serum that react to RNA-polymerase III.


Increased proportion of CD4-positive T cells

An elevation in the proportion of CD4-positive T cells relative to the total number of T cells.


Abnormality of the epiphyses of the 4th finger

Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger.


Underdeveloped nasolabial fold

Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure).


Contracture of the proximal interphalangeal joint of the 4th finger

Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.


Tissue ischemia

Ischemia is defined as a restriction of arterial blood supply to a tissue associated with insufficient oxygenation to support the metabolis requirements of the tissue. Depending on the involved tissues, clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. Additional associated manifestations include hemodynamic parameters (reduced blood pressure distal to the site of restricted arterial supply) and angiographic evidence of arterial occclusion.