Mesoaxial foot polydactyly

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


Abnormal circulating progesterone level

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Jumping

An excessive frequency of jumping in place.


Abnormal cardiac test

Abnormal test result of cardiovascular physiology.


Reduced quantity of Von Willebrand factor

Decreased quantity of von Willebrand factor.


commissural lip pits

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A depression located at an oral commissure.


Increased comfort with casual physical contact

An individual exhibits more physical contact with others than their usual behavior, seen as increased touch in platonic interactions or greater contact in romantic relationships.


Adrenal mass

A swelling or enlargment localized to the adrenal gland. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.


Few cafe-au-lait spots

The presence of two to five cafe-au-lait macules.


Long foot

Increased back to front length of the foot.


Small intestinal hamartoma

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


Electrical alternans

The QRS complexes of the electrocardiogram alternate in height.


Vascular ring

A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails.


epididymal neoplasm

A benign or malignant neoplasm that affects the epididymis. Representative examples include epididymal adenomatoid tumor and epididymal adenocarcinoma.


Gait ataxia

A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.


Triangular epiphyses of the 2nd finger

A triangular appearance of the epiphyses of the 2nd finger of the hand.


Aplasia/Hypoplasia of the nails

Aplasia or developmental hypoplasia of the nail.


Hypertrophy of the lower limb

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


Elevated CSF hydroxyproline concentration


Partial duplication of the middle phalanx of the 2nd finger

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


Pain insensitivity

Inability to perceive painful stimuli.


Hand pain

An unpleasant sensation characterized by physical discomfort localized to the hand.


Aplasia of the proximal phalanx of the 4th toe


Globus pallidus hypointensity on susceptibility-weighted imaging

Hypointence (dark) appearance of the globus pallidus inmagnetic resonance imaging using susceptibility weighted imaging (SWI).


Hyperglycorrhachia

Abnormally high glucose concentration in the cerebrospinal fluid.


Crumpled ear

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


Abnormal pigmentation of the oral mucosa

An abnormality of the pigmentation of the mucosa of the mouth.


Focal hyperkinetic seizure

A focal seizure characterized at onset by predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrusting, thrashing, rocking movements.


Cortical thickening of humeral diaphysis


Coccidioidal meningitis

A type of fungal meningitis caused by dissemination of coccidioides to basilar meninges.


Focal impaired awareness head nodding automatism seizure

A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary head nodding at onset.


Multiple long-bone exostoses

Multiple exostoses originating in long bones.


Pancreatic hamartoma

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


ovarian sex cord-stromal tumor

A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. Representative examples include thecoma, fibroma, Sertoli cell tumor, and granulosa cell tumor.


Diaphragmatic weakness

A decrease in the strength of the diaphragm.


Anti-myelin oligodendrocyte glycoprotein antibody positivity

Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein.


Cautious gait

Cautious gait refers to an excessive degree of age-related changes in walking and fear of falling. The walking difficulties seem out of proportion when considering the patient's actual sensory or motor deficits. The gait appears slow, with a wider base than normal, reduced arm swing bilaterally and a slightly stooped posture. This type of gait change often occurs after the first time a patient has fallen.


Congenital earlobe sinuses

Pits in the earlobes at the location where ears are typically pierced for earrings.


Abnormal serum estrone

A deviation from the normal concentration of circulating estrone.


Enlarged epiphysis of the distal phalanx of the 5th toe


Irregular epiphysis of the proximal phalanx of the 2nd finger


Brachiocephalic artery aneurysm

An abnormal widening (dilatation) of the brachiocephalic artery


EEG with hyperventilation-induced focal epileptiform discharges

Focal epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


Anti-phosphatidyl ethanolamine antibody positivity

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


Sandal gap

A widely spaced gap between the first toe (the great toe) and the second toe.


Duplication of phalanx of 5th finger

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


patent ductus venosus

A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver).


Anal pain

Pain in and around the anus or rectum (perianal region).


Duplication of the proximal phalanx of the 3rd toe

Partial or complete duplication of proximal phalanx of third toe.


isolated focal cortical dysplasia type II

A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities.


Anterior predominant pachygyria with 5-10 mm cortical thickness

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


Delayed patellar ossification

Formation of bone in the patella later than normal.


Enlarged proximal interphalangeal joints


Focal aware motor seizure

A type of focal motor seizure in which awareness is retained throughout the seizure.


Abnormal circulating dicarboxylic acid concentration

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


Abnormality of urine homeostasis

An abnormality of the composition of urine or the levels of its components.


physical urticaria

A distinct subgroup of the urticaria that are induced by an exogenous physical stimulus rather than occurring spontaneously.


Elevated haptoglobin level

An abnormally high concentration of haptoglobin in the blood circulation. Haptoglobin is an acute-phase reactant whose levels can become elevated in the presence of infection and inflammation.


Absent nares

The nostrils (the paired channels of the nose) are not present.


Focal impaired awareness verbal automatism seizure

A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive words, phrases, or brief sentences at onset.


Hypoplasia of the brainstem

Underdevelopment of the brainstem.


Abnormal doll's eye reflex

The doll's eye reflex (also known as oculocephalic reflex) is a test of brain function that is performed in comatose patients by elevating the head roughly 30 degrees and rapidly rotating the head from side to side with the eyes kept open. A normal response is for the eyes to move in the opposite direction. If the eyes do not move in the opposite direction this may indicate severe brain damage.


transient myeloproliferative syndrome

A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission.


Intratubular light-chain casts

The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules.


Muscle abnormality related to mitochondrial dysfunction


Thoracic aorta calcification

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


Lip telangiectasia

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


Corneal amyloidosis

A form of amyloidosis that is located in the cornea.


Abnormal hemoglobin concentration

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


Gallbladder biliary sludging

Presence of biliary sludge (a mixture of particulate solids that have precipitated from bile) in the gallbladder. Such sediment consists of cholesterol crystals, calcium bilirubinate pigment, and other calcium salts. Sludge is usually detected on transabdominal ultrasonography.


Abnormal circulating pyrimidine concentration

Any deviation from the normal concentration of a pyrimidine in the blood circulation.


pulmonary agenesis

An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities.


Primary amenorrhea

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


Increased glucose-6-phosphate dehydrogenase level in tissue

An increase in the level of glucose-6-phosphate dehydrogenase in tissue.


Recurrent infections due to aspiration

Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration.


Glomerular endocapillary neutrophil hypercellularity

Increased number of neutrophils internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries.


Increased CSF urate concentration

Increased concentration of urate in the cerebrospinal fluid.


Duplication of the middle phalanx of the 3rd toe

Partial or complete duplication of middle phalanx of third toe.


acute biphenotypic leukemia

An acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (WHO, 2001)


Bullet-shaped distal phalanges of the hand

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


Aplasia of the maxilla

A congenital defect characterized by absence of the Maxilla.


spondylolysis

A defect in the pars interarticularis of a vertebral bone.


Sleep-related eating disorder

Eating while asleep can be problematic, as it may involve potentially harmful behaviors like overeating or consuming raw meat.


Small epiphysis of the proximal phalanx of the 4th toe


Entrapment neuropathy of suprascapular nerve

An entrapment neuropathy of the suprascapular nerve, presenting with shoulder weakness confined to the supraspinatus muscle (this muscle initiates shoulder abduction) or to the infraspinatus (this muscle externally rotates the arm), as well as with pain in the posterior part of the shoulder and upper periscapular region.


Absent epiphyses of the thumb

Absence of one or more epiphyses of the thumb.


Motor neuron atrophy

Wasting involving the motor neuron.


Short thumb

Hypoplasia (congenital reduction in size) of the thumb.


Sclerosis of the distal phalanx of the hallux


Focal impaired awareness autonomic seizure with urge to urinate/defecate

A focal autonomic seizure with urge to urinate / defecate characterized by impaired awareness at some point during the seizure.


Abnormal lung development

A structural defect associated with abnormal development of the lung.


Triangular epiphysis of the middle phalanx of the 5th finger

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


aortic valve prolapse

The downward displacement of the cuspal or pointed end of the trileaflet aortic valve causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ascending aorta back into the left ventricle, leading to aortic regurgitation.


Hyperparakeratosis

Abnormal keratinization of the epidermal stratum coreum (horny layer) with increased keratin formation, preservation of the nuclei in the superficial cells, and absence of the stratum granulosum.


Trachyonychia

Excessive longitudinal ridging that gives the surface of the nail plate a rough appearance. It results from multiple foci of defective keratinization of the proximal nail matrix.


Aplasia of the phalanges of the toes

Absence of a digit or of one or more phalanges of a toe.


Small intestinal polyp

A discrete abnormal tissue mass that protrudes into the lumen of the small intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base.


Coxa magna

Widening of the femoral head and neck.


Joint contracture of the 4th finger

Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected.


Single raphe bicuspid aortic valve

A type of bicuspid aortic valvue (BAV) characterized by the presence of a single raphe that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps, resulting in two leaflets of unequal size.


Hairshafts with longitudinal grooves

Long narrow depressions running lengthwise in hairshafts. This feature can be appreciated by scanning electron microsopy.


Elongated superior cerebellar peduncle

Increased length of the superior cerebellar peduncle.


Abnormal mitral valve physiology

Any functional anomaly of the mitral valve.


Palmoplantar scaling skin

Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot.


Complete duplication of the distal phalanx of the 2nd toe

Complete duplication of the distal phalanx of second toe.


Proximal symphalangism of hands

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


Parietal meningocele

A herniation of meninges through a congenital bone defect in the skull in the parietal region.


Absent epiphysis of the proximal phalanx of the 4th toe


Temporomandibular joint crepitus

Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound.


Abnormality of the urethra

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


Proximal/middle symphalangism of the 2nd finger

Fusion of the proximal and middle phalanges of the 2nd finger.


Focal impaired awareness autonomic seizure with lacrimation

A focal autonomic seizure with lacrimation characterized by impaired awareness at some point during the seizure.


Holosystolic murmur

A heart murmur that occurs during the entire systolic phase from S1 to S2.


Scalp tenderness

Pain or discomfort of the scalp elicited by palpation.


Abnormal response to human chorionic gonadotrophin stimulation test

An anomalous response to intravenous stimulation by human chorionic gonadotrophin. Stimulation with hCG stimulates testicular Leydig cells to secrete androgens via the Leydig hormone receptors.


nevus, epidermal

A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed.


Abnormal atrioventricular valve morphology

An abnormality of an atrioventricular valve.


visual agnosia

An inability to recognize or interpret objects by sight.


Abnormal nasal mucus secretion

Any deviation from the normal quantity of secretion of nasal mucus, a thick viscous liquid produced by the mucous membranes of the nose.


Asymptomatic hyperammonemia

An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy.


Broncholith

A broncholith, a calcified peribronchial lymph node that erodes into an adjacent bronchus, is most often the consequence of Histoplasma or tuberculous infection. The imaging appearance is of a small calcific focus in or immediately adjacent to an airway, most frequently the right middle lobe bronchus. Broncholiths are readily identified on CT scans. Distal obstructive changes may include atelectasis, mucoid impaction, and bronchiectasis


Abnormal plasmablast proportion

A deviation from the normal proportion of plasmablasts in circulation relative to total number of B cells. Plasmablasts are antibody-secreting cells that originate after infection or vaccination.


Small trapezium

Underdevelopment of the trapezium.


Knee clonus

Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes.


Chronic (near) absent circulating IgG3

A lasting absence of immunoglobulin G3 (IgG3) in the blood, whereby at most trace quantities of IgG3 can be measured.


beta-aminoisobutyric acid, urinary excretion of

An increased amount of beta-aminoisobutyric acid in the urine. Beta-aminoisobutyric acid is a non-protein amino acid originating from the catabolism of thymine and valine.


Medullary peritubular capillary lumen organized thrombi

Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the medulla of the kidney.


Ivory epiphysis of the distal phalanx of the 3rd toe


Gallbladder dyskinesia

Reduced motility of the gallbladder with reduced emptying fraction.


supravalvular aortic stenosis

SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis.


Generalized arterial tortuosity

Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries.


Short phalanx of finger

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


Elbow clonus

Clonus at the elbow joint, i.e., an exaggerated phasic stretch reflex characterized by repetitive, rhythmic contractions at the elbow, generated by rapid passive stretch at the elbow joint.


Tetralogy of Fallot with absent pulmonary valve

Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue.


Ureterovesical junction obstruction

Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle.


Absent P wave

The P wave that normally precedes each QRS complex by a fixed PR interval of 120 to 200 milliseconds is not present.


Feeding difficulties in infancy

Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.


Areflexia of lower limbs

Inability to elicit tendon reflexes in the lower limbs.


Class I obesity

Obesity with a body mass index of 30 to 34.9 kg per square meter.


Abnormal capillary physiology

A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues.


Peripheral axonal degeneration

Progressive deterioration of peripheral axons.


Fractured elbow

A partial or complete breakage of the elbow.


Laryngeal calcification

Calcification (abnormal deposits of calcium) in the laryngeal tissues.


Abnormal tragus morphology

An abnormality of the tragus.


Bullet-shaped phalanges of the hand

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


Osteolytic defects of the phalanges of the hallux


Abnormal skin morphology of the palm

An abnormality of the skin of the palm, that is, the skin of the front of the hand.


Dilated third ventricle

An increase in size of the third ventricle.


Hip pain

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


Anti-Y-box protein-1 antibody positivity

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


Shovel-shaped maxillary central incisors

A tooth with a crown with marked lingual or palatal marginal ridges causing scooped lingual or palatal surfaces.


Aplasia/Hypoplasia involving the femoral head and neck


Decreased number of large peripheral myelinated nerve fibers

A reduced number of large myelinated nerve fibers.


Unsteady gait

A shaky or wobbly manner of walking.


Absence of intrinsic factor

Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12.


Lumbar hypertrichosis

Excessive, increased hair growth located in the lumbar region.


Abnormal renal morphology

Any structural anomaly of the kidney.


Hypoprolinemia

A decreased amount of proline in the blood.


Abnormal gastric mucosa morphology

An abnormality of the gastric mucous membrane.


Lateral spinal meningocele

Protrusion of the arachnoid and dura through spinal foramina.


Abnormal Bowman space morphology

Structural anomaly located in Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron.


palmar fibromatosis

A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males.


Aplasia/hypoplasia involving forearm bones

Absence (due to failure to form) or underdevelopment of one or more forearm bones.


Anti-Ku antibody positivity

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


Bullet-shaped proximal phalanges of the hand

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


Extreme oligozoospermia

A type of oligozoospermia characterized by a total number of more than zero but less than 2 million sperm in the ejaculate or a concentration of more than zero but less than one million sperm per milliliter.


Elevated circulating pyridinoline concentration

An increased concentration of hydroxylysyl-pyridinoline (pyridinoline) in the blood circulation.


Abnormality of exocrine pancreas physiology

A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes.


Oligoclonal elevation of circulating IgM

An increase in circulating IgM characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase.


Irregular epiphysis of the middle phalanx of the 2nd toe


Sarcomatoid carcinoma of the tongue

Sarcomatoid (spindle cell) carcinomas of the tongue is a variant of squamous carcinoma of tongue that is monoclonal, having evolved from a conventional squamous carcinoma with dedifferentiation associated with sarcomatoid transformation.


Grade I preterm intraventricular hemorrhage

Intraventricular hemorrhage that occurs in a preterm infant and that is restricted to subependymal region/germline matrix which is seen in the caudothalamic groove.


Anomalous origin of the left common carotid artery from the main pulmonary artery

The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the main pulmonary artery.


Jamais vu aura

A subjective feeling that an experience which has occurred before is being experienced for the first time.


Decreased circulating 18-hydroxycortisone level

A subnormal concentration of 18-Hydroxycorticosterone level in the blood circulation.


Pes cavus

An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).


Anesthetic-induced rhabdomylosis

Rhabdomyolysis induced by anesthesia.


Elevated circulating hepcidin concentration

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


Xanthomas of the palmar creases

The presence of multiple xanthomas (xanthomata) in the skin distributed in the creases of the palm of the hand. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.


Decreased cystatin C level

A decreased concentration of cystatin C in the blood circulation.


Abnormal proportion of memory B cells

A deviation of the normal proportion of memory B cells in circulation relative to total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).


Anti-GM1 antibody positivity

Ganglioside-monosialic acid (GM1) is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury


Right ventricular cardiomyopathy

Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease.


Superficial blush-like subcutaneous fatty lesions

Multiple, oblong, fatty lesions in the superficial subcutaneous fatty tissue. They are mostly under 2 cm in long axis diameter. They demonstrate nodular (blush-like) increased fluid signal at unenhanced MRI and are markedly hyperechoic at ultrasound.


Fractured lower limb segment

A partial or complete breakage of the lower limb segment.


hemidystonia

A multifocal dystonia that involves the arm and leg on the same side of the body.


Irritability

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


Abnormal pulmonary artery morphology

An abnormality of the structure of the pulmonary artery.


Anti-desmoglein-3 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-3, a dermal cell adhesion molecule.


Focal non-convulsive status epilepticus without impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness remains intact.


Increased proportion of plasmablasts

An elevation above the normal proportion of plasmablasts in circulation relative to total number of B cells.


Laryngeal hypoplasia

Underdevelopment of the larynx.


Metatarsus valgus

A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight.


Hippocampal sclerosis

Hippocampal sclerosis is a neuropathologic finding characterized by neuronal loss and gliosis in the CA-1 and subiculum of the hippocampus.


Dysplasia of the superior cerebellar vermis

A type of cerebellar dysplasia that affects the upper part of the cerebellar vermis.


Congenital panfollicular nevus

A hamartomatous proliferation containing malformed hair follicles in various stages of development. Panfolliculomas are well-circumscribed lesions demonstrating all stages of follicular differentiation.


Thin vermilion border

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


Stahl ear

The presence of a supernumerary, i.e. third, crus of the helix in the helix, arising at or above the normal bifurcation of the antihelix.


Pancreatic alpha-cell hyperplasia

A diffuse and specific increase in the number of alpha-cells.


Complete duplication of the middle phalanx of the 5th toe.


Anti-GD1a IgM antibody positivity

The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a.


Abnormal perifollicular morphology

Any structural anomaly in the areas surrounding the hair follicles.


Decreased circulating globulin level

An abnormally reduced concentration of globulins in the blood.


Abnormal renal arteriole endothelium morphology

Any structural anomaly of the lining (endothelium) of the arterioles of the kidney.


Median cleft upper lip

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


Aplasia/hypoplasia involving bones of the extremities


Barrel-shaped tooth

A tooth crown with convex mesial and distal surfaces.


Abnormal 2nd metacarpal morphology

Any abnormality of the second metacarpal bone.


Abnormal fetal genitourinary system morphology

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


Fused labia majora

The outer labia are sealed together.


Decreased dermal collagen

Abnormally reduced amount of collagen fibers in the dermis.


Coxa valga

Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).


Abnormal appendicular skeleton morphology

An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles.


Increased circulating apolipoprotein circulation

Elevated concentration in the blood circulation of a lipid-transport protein (apoliprotein).


Dilatation of the renal pelvis

The presence of dilatation of the renal pelvis.


Episodic metabolic acidosis

Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids.


The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles.


Focal aware cognitive seizure with hallucination

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


Abnormality of connective tissue

Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat).


EEG with parietal sharp waves

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


Secondary hyperaldosteronism

A form of hyperaldosteronism caused by abnormally increased renin levels.


Left anterior fascicular block

Conduction block in the anterior division of the left bundle branch of the bundle of His.


Decreased circulating apolipoprotein E concentration

Concentration of apolipoprotein E below the lower limit of normal.


Status epilepticus with ictal paresis

A type of focal motor status epilepticus characterized by prolonged ictal paresis or inhibitory motor seizures.


X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.


Coarse hair

Hair shafts are rough in texture.


Chronic fatigue

Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer.


Disproportionate short-limb short stature

A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.


Tracheal cartilaginous sleeve

Tracheal cartilaginous sleeve (TCS) is a rare congenital airway malformation in which distinct tracheal rings are replaced by a continuous cartilaginous segment. Vertically fused C- or O-shaped cartilaginous rings can extend from the subglottis to the carina or bronchus with little to no pars membranacea posteriorly. Comment:Tracheal cartilaginous sleeve has been associated with various craniosynostosis syndromes.


Aplasia/Hypoplasia of the phalanges of the 2nd finger


Noncompaction cardiomyopathy that affects both ventricles.


Oral motor hypotonia

Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior.


Triangular epiphysis of the proximal phalanx of the 2nd toe


Complete duplication of the middle phalanges of the hand

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


Focal aware sensory seizure

A focal sensory seizure during which awareness is retained throughout the seizure.


Dysgyria

An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation.


Reduced eye contact

A reduced frequency or duration of eye contact.


neuroepithelial neoplasm

A neoplasm of the nervous system that arises from the neuroepithelial tissues. Representative examples include astrocytic tumors, oligodendroglial tumors, ependymal tumors, and primitive neuroectodermal tumors.


Gluten intolerance

A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease.


Abnormal CSF aromatic amino acid concentration

Any deviation from the normal concentration of aromatic amino acids in the cerebrospinal fluid.


Partial duplication of the middle phalanx of the 5th toe.


Lipid-laden macrophages in bronchoalveolar fluid

Accumulation of lipids in alveolar macrophages with droplet-shaped fat inclusions.


normal pressure hydrocephalus

A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see gait disorders, neurologic), progressive intellectual decline, and urinary incontinence. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of csf including subarachnoid hemorrhage, chronic meningitis, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)


Absence of the reflex of the tensor tympani muscle


Pyriform aperture stenosis

Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose.


Silhouette sign

The silhouette sign is the absence of depiction of an anatomic soft-tissue border. It is caused by consolidation and/or atelectasis of the adjacent lung, by a large mass, or by contiguous pleural fluid. The silhouette sign results from the juxtaposition of structures of similar radiographic attenuation. The sign actually refers to the absence of a silhouette.


Talipes valgus

Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot.


Progressive conductive hearing impairment

A progressive type of conductive deafness.


Abnormal red nucleus morphology

Any structural anomaly of the red nucleus, a part of the midbrain involved in control of movement.


Abnormality of the peripheral nervous system

Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.


Adrenal xanthomatosis

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


Steroid-sensitive nephrotic syndrome with frequent relapses

A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of two or more relapses (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response or four or more relapses in any 12-month period.


complex partial epilepsy

A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and automatism may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)


Increased pituitary glycoprotein hormone alpha subunit level

An increased concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones.


Hyperplastic labia majora

Overgrowth of the outer labia.


endocardial fibroelastosis

Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia.


Triangular epiphysis of the distal phalanx of the 4th toe


Intellectual disability, mild

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


Aplasia of the 3rd finger

Absent 3rd finger.


Isolated systolic hypertension

Elevated systolic blood pressure without an elevated blood pressure.


Narrow mouth

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


Recurrent meningitis

An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis.


Short-segment aganglionic megacolon

A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid.


Secundum atrial septal defect

A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.


Triangular shaped thumb phalanx

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


Recurrent aspiration pneumonia

Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia.


vibratory urticaria

This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful.


Elevated functional residual capacity

An abnormal increase in the volume remaining in the lungs after a normal, passive exhalation.


Loss of ambulation

Inability to walk in a person who previous had the ability to walk.


Long palm

For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length.


Reversible renal failure

Acute renal failure with resolution of manifestations.


Abnormality of intrinsic muscle of tongue

An abnormality of an intrinsic muscle of tongue.


Fetal posterior fossa hemorrhage

A type of fetal intracranial hemorrhage that occurs in the posterior cranial fossa, which is the part of the cranial cavity that is located between the foramen magnum and tentorium cerebelli and contains the brainstem and cerebellum.


Subcutaneous ossification

Formation of abnormal, extraskeletal bony tissue in the soft tissue beneath the skin. Subcutaneous ossifications may be observed by radiography or by palpation.


Air trapping

Air trapping is retention of air in the lung distal to an obstruction (usually partial). Air trapping is seen on end-expiration CT scans as parenchymal areas with less than normal increase in attenuation and lack of volume reduction. Comparison between inspiratory and expiratory CT scans can be helpful when air trapping is subtle or diffuse.


Focal autonomic seizure with piloerection

A type of focal autonomic seizure characterized by piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) as the initial semiological feature.


fasciitis

Inflammation process in fascia.


Curved distal phalanx of the thumb

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


Increased anti-dairy protein IgE antibody level

Increased level of IgE antibody against dairy proteins, including casein, alpha-lactalbumin, beta-lactoglobulin or bovine serum albumin contained in cow, sheep or goat milk and milk products.


High-frequency sensorineural hearing impairment

A form of sensorineural hearing impairment that affects primarily the higher frequencies.


bifid uvula

Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.


Spastic dysarthria

A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality.


Premature graying of hair

Development of gray hair at a younger than normal age.


Short columella

Reduced distance from the anterior border of the naris to the subnasale.


Oval macrocytosis

Enlarged, oval-shaped erythrocytes (red blood cells).


Clavicular pseudarthrosis

A developmental defect in a the clavicule leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or false joint).


Tibiofibular interosseous membrane calcification

Deposition of excess calcium in the interosseous membrane of the leg, which extends between the interosseous crests of the tibia and fibula and separates the anterior and posterior muscles of the lower leg.


Mycobacterium abscessus abscessus infection

Mycobacterium abscessus complex comprises a group of rapidly growing, multidrug-resistant, nontuberculous mycobacteria that are responsible for a wide spectrum of skin and soft tissue diseases, central nervous system infections, bacteremia, and ocular and other infections.


Absent cupid's bow

Lack of paramedian peaks and median notch of the upper lip vermilion.


Cervical neoplasm

A tumor (abnormal growth of tissue) of the uterine cervix.


Abnormal natural killer cell count

Any deviation from the normal overall count of natural killer (NK) cells in the circulation or a deviation from the normal distribution of NK cell subtypes.


Dilatation of superior mesenteric artery

Abnormal outpouching or sac-like dilatation in the wall of the superior mesenteric artery .


Abnormal 3rd finger phalanx morphology

Abnormality of the phalanges of the 3rd (middle) finger.


Focal aware sensory seizure with visual features

A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis.


Chronic decreased circulating IgG2

A lasting decrease of immunoglobulin G2 (IgG2) in the blood.


Generalized-onset seizure

A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.


Low alkaline phosphatase of hepatic origin

An abnormally reduced level of liver isoforms of alkaline phosphatase in the blood.


Anterior hypopituitarism

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


Unilateral renal hypoplasia

One sided hypoplasia of the kidney.


Decreased erythrocyte sedimentation rate

A reduced erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling.


tooth agenesis

A rare developmental dental anomaly in humans characterized by the absence of six or more teeth.


Streak ovary

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


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cytosolic-5-nucleotidase-1A (cN1A).


Reduced blood urea nitrogen

An abnormally low concentration of urea nitrogen in the blood.


Speech apraxia

A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur.


Elevated circulating beta-aminoisobutyric acid concentration

An increased concentration of beta-aminoisobutyric acid in the blood circulation.


Facial capillary hemangioma

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


Increased circulating ethanolamine concentration

Abnormally increased levels of ethanolamine in circulation.


Persistent lactic acidosis

A continuous form of lactic acidemia.


Increased blood pressure

Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension.


Triangular shaped distal phalanx of the 5th finger

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


Vaginal clear cell adenocarcinoma

A type of adenocarcinoma originating in the vagina and characterized by large cells with moderate to abundant clear cytoplasm.


Abnormal CSF homovanillic acid concentration

Any deviation from the normal concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.


Reduced circulating urocanic acid concentration

The concentration of urocanic acid in the blood circulation is below the lower limit of normal.


congenital factor XI deficiency

Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery.


Calcified ovarian cyst

A cyst of the ovary that exhibits deposition of calcium salts.


Rem parasomnia

Parasomnia occurs during REM sleep.


Dilated superficial abdominal veins

Increase in diameter of the veins located underneath the skin of the abdomen.


Ectopic liver

Ectopic liver is a rare developmental anomaly in which liver tissue is situated outside the liver. Thus, ectopic liver refers to autonomous islands of normal liver parenchyma located outside the liver. The term ectopic liver is also used, to include liver appendices attached to the native liver by a thin stalk although being fully separated from the latter.


Abnormal presence of ultra-large von Willebrand factor multimers

Detection of abnormal ultra-large von Willebrand factor multimers.


Medial/intimal arcuate venosclerosis

Thickening of the intima with fibrosis and/or duplication of the elastic lamina in arcuate veins.


Small epiphysis of the proximal phalanx of the 5th toe


Bilateral vertebral artery hypoplasia

Underdevelopment of the vertebral artery on both sides.


Fractured metacarpophalangeal joint

A partial or complete breakage of the metacarpophalangeal joint.


Hypothalamic arteriovenous malformation

An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the hypothalamus.


chronic leukemia

A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia.


Mixed respiratory and metabolic acidosis


Decreased proportion of plasmablasts

A reduction below the normal proportion of plasmablasts in circulation relative to total number of B cells.


Aplasia/hypoplasia involving bones of the lower limbs

Absence (due to failure to form) or underdevelopment of the bones of the lower limbs.


Intralobular interstitial thickening

A fine reticular pattern on high-resolution computed tomography, with the visible lines separated by a few millimeters. Regions of the lung with intralobular interstitial thickening characteristically show a fine lacelike or netlike appearance.


Increased CSF homocarnosine concentration

Abnormally increased levels of homocarnosine in cerebrospinal fluid.


ichthyosis

Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies.


Pulmonary arterial hypertension with lack of acute response to NO challenge

A form of pulmonary arterial hypertension with lack of adequate hemodynamic response to NO challenge (adequate response is defined as a reduction of mean pulmonary artery pressure (mPAP) of at least 10 mmHg to reach an absolute value of mPAP 40 mmHg or less with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm).


Increased circulating beta-carotene concentration

The concentration of beta-carotene in the blood circulation is above the upper limit of normal.


Carpal osteolysis

Osteolysis affecting carpal bones.


Finger symphalangism

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


Declarative memory loss

Impaired ability to remember facts and events.


Gustatory sensory seeking

Pursuit of a particular taste that is abnormal in intensity and/or frequency.


Anti-Ri antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ri, an antineuronal antibody.


Decreased circulating apolipoprotein A-I concentration

Concentration of apolipoprotein A-I below the lower limit of normal. Apolipoprotein A-I is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease.


Pendulous urethral stricture

A type of urethral stricture affecting the pendulous urethra, which is straight and fixed to the corpora cavernosa.


Cone-shaped epiphyses of the middle phalanges of the hand


Reduced growth-hormone binding protein level

A decreased blood concentration of growth hormone binding protein.


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


Small epiphysis of the middle phalanx of the 4th finger

Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms.


Increased CSF interferon alpha

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


Dorsal subluxation of ulna

Partial dislocation of the ulna in the dorsal direction.


Slender distal phalanx of finger

Reduced diameter of the distal phalanx of finger.


Vacuolated lymphocytes

The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm.


Fragmentation of the epiphysis of the middle phalanx of the 5th toe


Acanthocytosis

Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.


Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava.


Abnormality of infra-orbital nerve

A structural abnormality of an infra-orbital nerve. The infraorbital nerve arises from the maxillary branch of the trigeminal nerve and normally traverses the orbital floor in the infraorbital canal.


Mottled pigmentation of photoexposed areas


Supernumerary pulmonary fissure

Presence of a lung fissure that does not exist normally. Supernumerary fissures include the superior accessory fissure, the medial basal fissure, the left horizontal fissure, and the azygos fissure form supernumerary lobes.


Focal hyperintensity of cerebral white matter on MRI

An abnormal area of increased brightness (hyperintensity) that is limited to one particular area.


Absent skin pigmentation

Lack of skin pigmentation (coloring).


Cock-walk gait

An abnormality of gait that can be observed in individuals with dystonic posture in which the individual walks with an extended trunk and flexed arms, while strutting on the toes without the heels touching the floor.


Stooped posture

A habitual positioning of the body with the head and upper back bent forward.


Dermal multinucleated giant cells

Presence of giant cells in the dermis. Giant cells are formed by fusion of various cells such as macrophage, epithelioid cells, monocytes, etc., These are multi-nucleated, large in size, and generally present at the site of chronic inflammation and other granulomatous conditions.


Specific anosmia

Anosmia for one particular odor.


Transverse facial cleft

A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear.


Ileal adenocarcinoma

A malignant epithelial tumor with a glandular organization that originates in the ileum.


Abdominal ectopia cordis

Displacement of the heart outside the thoracic cavity and into the abdomen.


Decreased mid-arm muscle circumference

Reduction of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children.


Absent right superior vena cava

Absence of the right superior vena cava (RSVC). An absent RSVC is always associated with a persistent left superior vena cava (PLSVC). During normal fetal development, the left-sided anterior venous cardinal system regresses, leaving the coronary sinus (CS) and the ligament of Marshall. Failure of the closure of the left anterior cardinal vein results in PLSVC. In general, PLSVC is associated with the right superior vena cava (RSVC) and drains into the RA via a dilated CS. When developmental arrest occurs at an earlier stage, the CS is absent and the PLSVC drains into the left atrium.


Transitional atrioventricular canal defect

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


Decreased circulating chenodeoxycholic acid concentration

A reduced concentration of chenodeoxycholic acid in the blood circulation.


Recurrent deep vein thrombosis

Repeated episodes of the formation of a blot clot in a deep vein.


Abnormal adipose tissue morphology

An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes.


Malignant rhabdoid tumor of muscle

A malginant rhabdoid tumor (MRT) originating in muscle tissue.


Patchy sclerosis of the middle phalanx of the 3rd toe


Decreased circulating norepinephrine concentration

Concentration of norepinephrin in the blood circulation below the lower limit of normal.


Elevated CSF saccharopine concentration

Concentration of saccharopine in the cerebrospinal fluid (CSF) above the upper limit of normal.


Cortical radial artery intimal/medial amyloidosis

Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy


Enlarged posterior fossa

Abnormal increased size of the posterior cranial fossa.


Immediate Echolalia

Immediate repetition of another person's speech.


Decreased proportion of CD4+CD25+ regulatory T cells

An abnormally decreased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.


Decreased CSF serine concentration

Abnormally decreased levels of serine in cerebrospinal fluid.


Medial calcification of large arteries

Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries.


Abnormal four chamber view of the fetal heart

The four-chamber (4Ch) view of the fetal heart is the most widely used screening examination for the detection of structural cardiac abnormalities during routine fetal ultrasonography. In the healthy normal fetus, the apical 4Ch view demonstrates four well-developed chambers, a concordant atrioventricular (AV) connection, unobstructed AV valves (mitral and tricuspid valves), the foramen ovale flap opening into left atrium (LA), and an intact interventricular septum. Additionally, the pulmonary venous opening can be visualized at the LA wall. Any structural deviations from normal anatomy may lead to congenital heart disease that can be determined by the 4Ch view of the fetal heart's ultrasound imaging.


Cerebral cortical atrophy

Atrophy of the cortex of the cerebrum.


Abnormal subarachnoid space morphology

Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid.


Bilateral lung agenesis

Bilateral lack of development of the lungs.


hereditary fructose intolerance

Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.


Duplication of the 1st metatarsal

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


Small epiphysis of the middle phalanx of the 5th finger

Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms.


Late onset atopic dermatitis

A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis.


Dust mite allergy

Hypersensitivity in form of an adverse immune reaction against dust mites.


Thin proximal phalanges with broad epiphyses of the hand


Abnormality of the extrinsic pathway

An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade.


Elevated systolic blood pressure

Abnormal increase in systolic blood pressure.


Calf muscle pseudohypertrophy

Enlargement of the muscles of the calf due to their replacement by connective tissue or fat.


Impaired phorbol myristate acetate-induced platelet aggregation

Abnormal response to phorbol myristate acetate (PMA) as manifested by reduced or lacking aggregation of platelets upon addition of PMA.


Complete left sided absence of pericardium

A congenital anomaly with complete lack of the pericardium on the lefthand side of the heart.


Chronic absent circulating IgD

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


Abnormality of radial diaphysis

An anomaly of the radial diaphysis.


Distal sensory impairment of all modalities

Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities.


Anterior plagiocephaly

Asymmetry of the anterior part of the skull.


Abnormal nasal bridge morphology

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


Perihepatic enhancement

Increased signal (contrast enhancement) surrounding the liver observed on computer tomography or magnetic resonance imaging following administration of contrast agents.


Perinuclear antineutrophil antibody positivity

The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils.


Trophic changes related to pain

Trophic changes is a term used to describe abnormalities in the area of pain that include primarily wasting away of the skin, tissues, or muscle, thinning of the bones, and changes in how the hair or nails grow, including thickening or thinning of hair or brittle nails.


EEG with polyspike wave complexes

The presence of complexes of repetitive spikes and waves in EEG.


Monkey wrench femoral neck

The femoral neck region shows medial metaphyseal beaking and a significant enlargement of the lesser trochanter (with some enlargement also of the greater trochanter), producing a monkey wrench (Swedish key) configuration of the proximal femur. A monkey wrench refers to a type of adjustable wrench with one fixed and one adjustable jaw at right angles to a straight handle.


Skin detachment

Loss of sections of skin either spontaneously or after gentle handling.


Abnormal circulating leptin concentration

An abnormal concentration of leptin in the blood.


Camurati-Engelmann disease

Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.


Tubulointerstitial viral infiltration

Infiltration of viruses into renal tubulointerstitial tissues as demonstrated on renal biopsy by viral inclusions which can be seen on routine stains or with immunohistochemistry.


Abnormal factor IX activity

Abnormal activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.


Aplasia/Hypoplasia involving the musculature of the upper limbs

Absence or underdevelopment of the musculature of the upper limbs.


Abnormality of the knee

An abnormality of the knee joint or surrounding structures.


Reduced factor IX activity

Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.


EEG with photoparoxysmal response grade III

Occurrence of epileptiform discharges in occipital, central, temporal and parietal regions during photic stimulation.


Thickened elastic fibers in the dermis

An increase of the diameter of elastic fibers in the dermis.


Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis

A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, and also has a pulmonary stenosis; abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


Long umbilical cord

Increased length of the umbilical cord.


Complete duplication of the proximal phalanx of the 2nd toe

Complete duplication of proximal phalanx of second toe.


Aplasia/hypoplasia involving the skeleton

Absence (due to failure to form) or underdevelopment of one or more components of the skeleton.


Abnormal delivery

An abnormality of the birth process.


digestive system neoplasm

A neoplasm (disease) that involves the digestive system.


Cryptozoospermia

A type of oligozoospermia in which spermatozoa can be detected in an ejaculate only after centrifugation and inspection of the pellet.


4-5 finger syndactyly

Syndactyly with fusion of fingers four and five.


Hyperconvex nail

When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity.


Overriding aorta

An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle.


Erythroid dysplasia

Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts.


Dermatological manifestations of systemic disorders


Vertebral segmentation defect

An abnormality related to a defect of vertebral separation during development.


Patchy sclerosis of 3rd toe phalanx

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


Glomerular capillary microaneurysm

Glomerular capillary dilatation due to loosening/detachment of the glomerular basement membrane (GBM) from its anchoring points, usually in the context of mesangiolysis or nodular glomerulosclerosis.


Fatigable weakness of swallowing muscles

A type of weakness of the muscles involved in swallowing 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.


Abnormal 5th finger morphology

An abnormality affecting one or both 5th fingers.


Bracket epiphyses of the 5th finger

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


Renal cortical cysts

Cysts of the cortex of the kidney.


Glomerular capillary congestion

Global distention of glomerular capillaries with intraluminal intact red blood cells.


Gastric diverticulum

An outpouching of the gastric wall.


Focal impaired awareness sensory seizure with hot-cold sensations

A focal sensory seizure with hot-cold sensations in which awareness is partially or fully impaired at some point during the seizure.


Abnormal neural tube morphology

Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord).


Decreased middle cerebral artery pulsatility index

Abnormally reduced blood flow pulsatility in in the middle cerebral artery (MCA). The pulsatility index (PI) is calculated using the following equation PI = (peak systolic velocity-end-diastolic velocity)/mean velocity.


Episodic hyperhidrosis

Intermittent episodes of abnormally increased perspiration.


Atrophic muscularis propria

Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis.


Ovarian papillary adenocarcinoma

The presence of a papillary adenocarcinoma of the ovary.


Abnormality of styloglossus muscle

An abnormality of the styloglossus muscle.


Osteolytic defects of the distal phalanges of the toes


Scapular aplasia

Absence of the scapulae.


Focal aware undressing automatism seizure

A type of focal automatism seizure characterized by involuntary undressing at onset and during which awareness is fully retained throughout.


Increased circulating A-type natriuretic peptide concentration

A measurable elevation in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure.


Subpleural curvilinear line

This finding is a thin curvilinear opacity, 1-3 mm in thickness, lying less than 1 cm from and parallel to the pleural surface. It corresponds to atelectasis of normal lung if seen in the dependent posteroinferior portion of lung of a patient in the supine position and is subsequently shown to disappear on CT sections acquired with the patient prone. It may also be encountered in patients with pulmonary edema or fibrosis (other signs are usually present).


Soft tissue swelling of interphalangeal joints


Reduced epidermal keratin 14 protein expression

Amount of keratin 14 in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy.


Absent epiphysis of the distal phalanx of the thumb

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


Os odontoideum

Separation of the odontoid process from the body of the axis.


Intermittent thrombocytopenia

Reduced platelet count that occurs sporadically, i.e., it comes and goes.


frontotemporal dementia

Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy.


Elevated CSF N-carbamyl-beta-alanine concentration

The concentration of N-carbamyl-beta-alanine in the cerebrospinal fluid is above the upper limit of normal.


Widened subarachnoid space

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


Self hugging

Involuntary, tic-like movements consisted of crossing both arms across the chest and tensing the body or clasping the hands and squeezing the arms to the sides. The movements last a few seconds and may occur in series or flurries, generally accompanied by facial grimacing and occasional grunting.


Granular casts

A type of acelluar casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented.


EEG with focal spikes

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


Abnormality of the middle phalanges of the toes


Agenesis of central incisor

Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor.


Ivory epiphyses of the 2nd finger

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


facial hemiatrophy

Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved.


Persistent EBV viremia

Persistent presence of Epstein-Barr virus in the blood.


Hypnopompic hallucination

Brief hallucinations that occur as you wake up in the morning, in a state that falls somewhere between dreaming and being fully awake.


Arcuate vein medial atrophy

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


Fetal intraventricular hemorrhage with ventriculomegaly

A type of fetal intraventricular hemorrhage (IVH) characterized by spillover to ventricles with flooding of 50% or more of one or both lateral ventricles accrued accompanying ventriculomegaly, but with no apparent brain parenchymal injury. This type of IVH may be defined as a diameter exceeding 15 mm in the transverse diameter of the lateral ventricular atrium as visualiuzed by prenatal sonography.


hyperostosis cranialis interna

Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull.


Abnormality of the eleventh cranial nerve.


Renal cortical microcysts

Cysts of microscopic size confined to the cortex of the kidney.


Contractures of the metatarsophalangeal joint of the hallux

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


Overhanging nasal tip

Positioning of the nasal tip inferior to the nasal base.


Increased circulating band cell count

The number of band cells in the peripheral blood circulation is above the upper limit of normal. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small secondary granules, and a nucleus:cytoplasm ratio of 1:2.


Anti-HLA antibody positivity

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


Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis

A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


Bilious emesis

Vomiting whereby the vomit has the color of bile, yellowish-green.


parietal foramina

Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.


Abnormal cerebral morphology

Any structural abnormality of the telencephalon, which is also known as the cerebrum.


Bullet-shaped 3rd toe phalanx

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


Anti-BP230 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against BP230.


Decreased esterified to free carnitine ratio

A reduced ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.


Acinar dysplasia

Arrest of lung development in the pseudoglandular stage (weeks 8 to 16 of human gestation) resulting in small sized lungs, predominantly composed of bronchial and bronchiolar structures embedded in abundant loose mesenchyme that is poorly vascularized. Acinar structures are essentially absent, with no significant formation of saccules and no alveoli.


Left ventricular diastolic dysfunction

Abnormal function of the left ventricule during left ventricular relaxation and filling.


Enlarged epiphysis of the proximal phalanx of the 4th toe


Thin-cap fibroatheroma

Thin-cap fibroatheroma is characterized by a relatively large necrotic core with an overlying thin fibrous cap measuring less than 65 micrometers and typically containing numerous macrophages, and is considered to be the precursor lesion of plaque rupture which is the most common cause of coronary thrombosis.


Expressive aphasia

Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it.


Increased number of lymph nodes

An abnormally elevated number of lymph nodes in an anatomical region.


Complete duplication of the distal phalanx of the 3rd toe

Complete duplication of distal phalanx of third toe.


Tortuous cerebral arteries

Excessive bending, twisting, and winding of a cerebral artery.


microlissencephaly

Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years.


Neoplasm of the male external genitalia

A tumor (abnormal growth of tissue) of the male external genitalia.


Short proximal phalanx of the 5th toe

Developmental hypoplasia of the proximal phalanx of fifth toe.


PR segment elevation

An increase in voltage of the PR segment above baseline.


Abnormal psychotic pattern

Any abnormal pattern of psychotic experiences, where an individual has significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality.


Misophonia

An adverse response (dislike) to sound no matter what volume the sound is, characterized by a strong negative reaction to soft sounds that can sometimes be further triggered by seeing the source of the offending sound.


Male sexual dysfunction

A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity


Uninodular goiter

Enlargement of the thyroid gland related to a singular nodule in the thyroid gland.


Symphalangism of the 3rd finger

Fusion of two or more bones of the 3rd finger.


Bullet-shaped middle phalanx of the 4th toe

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


Contractures of the distal interphalangeal joint of the 5th toe

The distal interphalangeal joint of the 5th toe cannot be straightened actively or passively.


Hypomimic face

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


Abnormal incisor morphology

An abnormality of morphology of the incisor tooth.


lissencephaly spectrum disorders

The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterized by simplification or absence of folding) associated with abnormal organization of the cortical layers as a result of neuronal migration defects during embryogenesis.


Increased renal tubular phosphate reabsorption


Peripheral nerve polyglucosan inclusion bodies

Accumulation of a poorly branched and poorly spherical amylopectin-like glycogen (polyglucosan) in peripheral nerve fibers.


Hyperalbuminemia

Elevation in the concentration of albumin in the blood.


Increased VLDL cholesterol concentration

An increase in the amount of very-low-density lipoprotein cholesterol in the blood.


Pulmonary artery aneurysm

An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery.


Anal margin melanoma

A melanoma that originates in the anal margin.


Rhythmic movements of the tympanic membrane

Regularly occuring motion of the tympanic membrane (eardrum), which is located between the inner and middle ear. This can be a manifestation of tensor tympani myoclonus, which can also be ascertained as sawtooth patterns on long-term tympanometry.


Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole

A focal autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by impaired awareness at some point during the seizure.


Calcification of the auricular cartilage

Ossification affecting the external ear cartilage.


Abnormal intrarenal artery morphology

An anomalous structure of an artery located in the kidney.


Auricular pit

Small indentation in the lower part of the ascending helix, concha, or in the crus helix.


EEG with occipital epileptiform discharges

Focal epileptiform EEG discharges recorded in the occipital region.


Long phalanx of finger

Increased length of multiple or a single phalanx of finger.


Failure to thrive secondary to recurrent infections

Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections.


Aspirin-induced asthma

A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction.


A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment.


Increased iduronate sulfatase level

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


Focal aware autonomic seizure with pupillary dilation/constriction

A focal autonomic seizure with pupillary dilation / constriction characterized by retained awareness throughout the seizure.


Rapp-Hodgkin syndrome

A form of ectodermal dysplasia characterized by the association of anhidrotic ectodermal dysplasia with cleft lip/palate.


Calvarial osteosclerosis

An increase in bone density affecting the calvaria (roof of the skull).


Atrophy/Degeneration affecting the central nervous system


Abnormality of the xiphoid process

An abnormality of the xiphoid process of the sternum.


Hockey-stick palmar crease

An abnormality of the upper palmar crease whereby the crease widens and ends between the second and third fingers and is said to resemble a hockey stick.


Broad radial diaphysis

Increase in width of the diaphysis of radius.


Clostridium difficile enteritis

An infection of the small intestine (enteritis) by clostridium difficile.


Placenta percreta

Placenta percreta is a rare form of morbidly adherent placenta with penetration through the myometrium reaching serosa and even adjacent pelvic organs.


Abnormal fourth ventricle morphology

An abnormality of the fourth ventricle.


Abnormal movements of the whole body

Abnormal movements of the whole body.


Opportunistic bacterial infection

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


Pursed lips

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


Dilatated internal auditory canal

The presence of a dilated inner part of external acoustic meatus.


Impaired renal tubular reabsorption of low molecular weight protein

Increased loss of low-molecular weight proteins by the kidneys, measured in terms of the fractional excretion (FE). The FE of low-molecular-weight proteins such as beta2-microglobulin can be measured in terms of plasma and urine concentrations, since urinary low-molecular-weight protein concentrations can vary with water reabsorption.


Abnormal glucose-6-phosphate dehydrogenase level in leukocytes

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


Deficit in grammar

Deficit in grammar, including syntax and morphology.


Decreased CSF homovanillic acid concentration

Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.


Sacral dimple

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


Elevated circulating reverse T3 concentration

Abnormally increased concentration of reverse T3 (3,3',5'-triiodothyronine or rT3) in the blood circulation.


Enlarged lunula

Abnormal enlargement of the visible portion of the distal nail matrix that extends beyond the proximal nail fold, which is refered to as the lunula.


Neck muscle weakness

Decreased strength of the neck musculature.


Anti-PM-Scl75 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl75.


Testicular mass

An abnormal bulge or lump in a testis. A testicular mass has a long differential diagnosis including testicular torsion, epididymitis, acute orchitis, strangulated hernia and testicular cancer.


Decreased proportion of naive B cells

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


Pituitary gland cyst

A fluid-filled sacs that develop on or near the pituitary gland.


Hypoplastic ischia

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


Multiple pancreatic beta-cell adenomas

The presence of multiple pancreatic islet cell adenomas.


tumor of uterus

A neoplasm (disease) that involves the uterus.


Ash-leaf spot

A hypopigmented spot in the shape of a leaf from the mountain ash tree.


Sparse body hair

Sparseness of the body hair.


Renal arteriole endoarterial hypercellularity

Abnormal and excessive number of cells (hypercellularity) in the lining (endothelium) of the arterioles of the kidney.


Metaphyseal cupping

Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance.


double outlet right ventricle

Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle.


Partial-complete absence of 5th phalanges


Dilatation of mesenteric artery

Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery .


Abnormal QT interval

Any anomaly of the time interval between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).


Elevated CSF aspartylglucosamine concentration

Concentration of aspartylglucosamine in the cerebrospinal fluid (CSF) above the upper limit of normal.


Hypoinsulinemia

A decreased concentration of insulin in the blood.


Mixed hypo- and hyperpigmentation of the skin


Anti-phosphatidyl choline antibody positivity

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


Fasting hyperinsulinemia

An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake.


soft tissue sarcoma

A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones.


Abnormality of the musculature

Abnormality originating in one or more muscles, i.e., of the set of muscles of body.


Toe deformity

Abnormal positioning of toe phalanges. Deformities of the lesser toes often occur gradually, though they can be brought on by trauma. The main adult sagittal plane deformities consist of claw toes, hammer toes and mallet toes. Axial plane deformities include crossover toes.


Anti-B23 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against B23.


Abnormal circulating metabolite concentration

An abnormal level of an analyte measured in the blood.


Enlarged epiphyses of the middle phalanges of the hand


Pontine tegmental cap

An abnormal curved or vaulted (capped) structure covering the middle third of the dorsal pontine tegmentum and projecting into the fourth ventricle.


Small nail

A nail that is diminished in length and width, i.e., underdeveloped nail.


Ganglioneuromatosis

Hyperplastic submucosal and myenteric plexus containing an increased number of ganglion cells, glial cells and nerve fibers.


Triangular shaped phalanges of the hallux


Decreased circulating free T3

A reduced concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation.


aortic valve atresia

A rare congenital heart defect characterized by the complete failure of the aortic valve to open. It is manifested during infancy with cyanosis, dyspnea, and rapidly progressing heart failure.


Increased factor VIII activity

Increased activity of the coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.


Unilateral renal dysplasia

A unilateral form of developmental dysplasia of the kidney.


Myoclonic status epilepticus

A type of motor status epilepticus with repeating bilateral sudden brief (less than 100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography.


Periocular capillary hemangioma

A capillary hemangioma surrounding the eyeball but within the orbit.


Decreased phytanic acid:pristanic acid ratio

A reduction below the normal ratio of blood phytanic acid concentration to pristanic acid concentration.


Acholic stools

Clay colored stools lacking bile pigment.


Partial duplication of the middle phalanx of the 3rd finger

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


Premature epimetaphyseal fusion in fibula

Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the fibula, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.


Aplasia/Hypoplasia of the ovary

Aplasia or developmental hypoplasia of the ovary.


Alpha-EEG

EEG dominated by diffuse alpha-waves (8-13Hz).


Fragmentation of the epiphysis of the distal phalanx of the 5th finger

Fragmented appearance of the epiphysis of the distal phalanx of the 5th finger.


Abnormal systemic blood pressure

A chronic deviation from normal pressure in the systemic arterial system.


Distal muscle weakness

Reduced strength of the musculature of the distal extremities.


Cutaneous horn

A cutaneous horn is a keratinized non-malignant protrusion on the surface of the skin. Diagnosis is established by biopsy of the horn and biopsy of the horn and the underlying skin.


Abnormal nervous system physiology

A functional anomaly of the nervous system.


Glomerular subepithelial immune-complex deposits

A type of glomerular subepithelial deposit characterized by finely granular material deposited between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM and corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).


esthesioneuroblastoma

A rare malignant neoplasm of the sinonasal cavity, arising from the basal layers of olfactory neuroepithelial cells in the superior nasal vault, which usually occurs in the 5th to 6th decades of life and is characterized clinically by non-specific symptoms such as progressive ipsilateral nasal block, sinusitis, facial pain, intermittent headaches, hyposmia/dysosmia, rhinorrhea and epistaxis as well as proptosis, diplopia and excessive lacrimation due to orbital extension. With early treatment and in the absence of distant metastases, ENB appears to have a good prognosis (compared to other superior nasal malignancies), despite a high rate of cervical metastases.


Insulin receptor antibody positivity

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


Increased CSF lysine concentration

Abnormally increased levels of lysine in cerebrospinal fluid.


Coronary artery sandwich anomaly

Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva, with the additional feature that the artery passes between the two great arteries. This carries a risk of the artery being compressed by these two vessels,


High serum calcitriol

An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.


Part-solid pulmonary nodule

Part-solid pulmonary nodules are nodules that present with both ground-glass and solid components in which the underlying lung architecture cannot be visualized.


Aplasia/Hypoplasia of the nasal septum

Absence or underdevelopment of the nasal septum.


Abnormal leukocyte physiology

A functional abnormality of a white blood cell.


heart sarcoma

A malignant soft tissue neoplasm that arises from the heart. The majority of cases are angiosarcomas.


Transient neutropenia

A transient reduction in the number of neutrophils in the peripheral blood. Transient neutropenia is most commonly associated with viral infections, but other causes include drugs and autoimmunity.


Transient hearing impairment

Hearing loss that occurs acutely and resolves completely.


Right unilambdoid synostosis

Premature synostosis of only the right lambdoid suture.


Broad long bone diaphyses

Increased width of the diaphysis of long bones.


Moderate sensorineural hearing impairment

The presence of a moderate form of sensorineural hearing impairment.