Peripheral dysmyelination

Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination.


motor peripheral neuropathy

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Inflammation or degeneration of the peripheral motor nerves.


Alveolar bone loss around teeth

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A decrease in the amount of alveolar bone around the root of a tooth.


Anti-desmoplakin I antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-1.


Darwin notch of helix

Small defect of the helical fold that lies at the junction of the superior and descending portions of the helix.


Intraventricular arachnoid cyst

An arachnoid cyst located within the ventricular system.


Silver-gray hair

Hypopigmented hair that appears silver-gray.


Abnormal circulating sex hormone concentration

Any deviation from the normal concentration of a sex hormone in the blood circulation


Irregular epiphyses of the distal phalanges of the hand


High serum calcifediol

An increased concentration of calcifediol in the blood. Calcifediol is also known as 25-hydroxycholecalciferol or 25-Hydroxyvitamin D3.


Microform bilateral cleft lip

Bilateral cleft lip in which the cleft lip on both sides are microform, i.e. a notch, groove, or scar without noticeable rupture of the lip.


Decreased CSF phenylalanine concentration

Abnormally decreased levels of phenylalanine in cerebrospinal fluid.


Vertebral hyperostosis

Excessive growth of the bones of the vertebral bodies.


Cardiomyocyte hypertrophy

An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes.


Lipid-laden lymph node macrophages

Lymph node with increased numbers of macrophages heavily laden with lipids.


Large posterior fontanelle

An enlargement of the posterior fontanelle relative to age-dependent norms.


Curved proximal phalanx of the hallux

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


Decreased intestinal transit time

A reduction in the length of time required for food to pass through the intestines.


Upper limb amyotrophy

Muscular atrophy involving the muscles of the upper limbs.


Patent ductus arteriosus after birth at term

Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater.


Decreased circulating creatine kinase concentration

A reduction in the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood.


acalvaria

Acalvaria is a rare malformation defined as missing scalp and flat bones over an area of the cranial vault. The size of the affected area is variable. In rare cases, acalvaria involves the whole of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones. Dura mater and associated muscles are absent in the affected area but the central nervous system is usually unaffected, although some neuropathological abnormality is often present (e.g. holoprosencephaly or gyration anomalies). Skull base and facial bones are normal.


Cervical aortic arch

The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta.


adrenogenital syndrome

Abnormal sex differentiation or congenital disorders of sex development caused by abnormal levels of steroid hormones expressed by the gonads or the adrenal glands, such as in congenital adrenal hyperplasia and adrenal cortex neoplasms. Due to abnormal steroid biosynthesis, clinical features include virilism in females; feminization in males; or precocious sexual development in children.


Increased CSF methionine concentration

Concentration of methionine in the cerebrospinal fluid above the upper limit of normal.


Impaired nasal mucociliary clearance

An abnormally increased amount of time required to clear mucus (and substances contained in the mucus) from the nasal mucosa. The nasal mucociliary clearance (NMC) system functions to transport the mucous layer lining the nasal epithelium towards the naso pharynx by ciliary beating in a metachronous fashion at a frequency of 7-16 Hz. NMC depends upon two principal components: physicochemical qualities and quantities of mucus and the properties of cilia that propel it. NMC is considered to be representative of pulmonary clearance. normal NMC time is determined to be up to 20 minutes. Duration of 30 minutes is considered as the cutoff point that discriminates normal subjects from subjects with impaired NMC. NMC can be measured by determination of the transport time of markers that are placed on the nasal mucosa including saccharine, radioactive markers, and dyes.


Notched P wave

V-shaped cut (notch) in the middle of the P wave.


Bifid nail

A digit with two nails, with at least some soft tissue between them.


Anti-angiotensin-converting enzyme 2 antibody positivity

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


Ectopic thymus tissue

The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend.


Mobius syndrome

Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.


Persistent cloaca

Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel.


Synotia

A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw.


Progressive distal muscular atrophy

Progressive muscular atrophy affecting muscles in the distal portions of the extremities.


EEG with occipital focal spike waves

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


Differential cyanosis

Differential degree of bluish discoloration between the upper and lower extremities.


malignant pericardial mesothelioma

A rare neoplasm of mesothelial origin that arises from the pericardium.


Increased urinary 1-methylhistidine

Increased concentration of 1-methylhistidine in the urine.


Cardiac conduction abnormality

Any anomaly of the progression of electrical impulses through the heart.


Recurrent coughing spasms

Repeated occurrence of episodes of coughing, with each episode consisting of at least five minutes of continuous coughing.


Dysgenesis of the hypothalamus

Structural abnormality of the hypothalamus related to defective development.


Hypoplasia of proximal radius

Proximal radial shortening owing to a congenital defect of development.


Abnormal endometrium morphology

An anomaly of the inner mucous membrane of the uterus.


Anomalous branches of internal carotid artery


Abnormality of the upper urinary tract

An abnormality of the upper urinary tract.


Maternal fever in pregnancy

The occurence of an elevated body temperature of the mother during pregnancy.


Increased spinal bone density

Increased bone density affecting the bones of the spine (vertebral column).


Cervical squamous cell papilloma

A benign tumor arising from the epithelial surface of the cervix and usually caused by Human Papillomavirus infection.


Descending aorta hypoplasia

Significant luminal narrowing of a long segment of the descending aorta.


Low femoral bone density

Reduced bone mineral density of the femur.


Complete duplication of the phalanges of the 2nd toe

Complete duplication of a phalanx of second toe.


Increased circulating IgD level

An abnormally increased level of immunoglobulin D in blood.


Dysplastic pulmonary valve

A congenital malformation of the pulmonary valve characterized by leaflet deformation.


3-5 finger syndactyly

Syndactyly with fusion of fingers three to five.


Global cerebellar dysplasia

A type of cerebellar dysplasia that affects the entire cerebellum.


Anti-thyroid-stimulating hormone receptor antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid-stimulating hormone.


Sensory seeking

Unusual interest in sensory aspects of the environment.


Shoulder girdle muscle atrophy

Amyotrophy affecting the muscles of the shoulder girdle.


Abnormality of the musculature of the upper limbs


Anterior bowing of long bones

An abnormal anterior curvature of a long bone.


Pappenheimer bodies

A type of erythrocyte inclusion characterized by basophilic stippling of erythrocytes, that is, by numerous very small coarse or fine blue granules within the cytoplasm with the additional stipulation that the stippled particles are due to iron granules (demonstrable by the Prussian blue stain).


Calf muscle hypoplasia

Underdevelopment of the muscuklature of the calf.


Bullet-shaped distal phalanx of the 2nd finger

Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected.


Aplasia of the olfactory tract

Aplasia (congenital absence) of the olfactory tract, which causes anosmia, a complete loss of the sense of smell.


testicular gonadoblastoma

A testicular mixed germ cell-sex cord-stromal tumor. It is usually associated with mixed gonadal dysgenesis and ambiguous genitalia. It is characterized by the presence of nests of large neoplastic germ cells and immature cells that resemble Sertoli cells.


Emotional hypersensitivity

Heightened emotional reactivity to environmental stimuli, including the emotions of others.


vesicoureteral reflux

Abnormal flow of urine from the urinary bladder back into the ureters.


ureter neoplasm

A benign or malignant neoplasm that affects the ureter.


Arcuate artery endoarterial neutrophil hypercellularity

A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils withinin the lumen of arcuate artery.


Insect bite allergy

Hypersensitivity in form of an adverse immune reaction against insect bites.


Uterine cervix myxoma

A myxoma (tumor of primitive connective tissue) localized to the the cervix of the uterus.


Permanent atrial fibrillation

Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent.


Anti-phospholipase A2 receptor antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the phospholipase A2 receptor.


Oral cavity bleeding

Recurrent or excessive bleeding from the mouth.


Elevated circulating thymine concentration

Concentration of the nucleobase thymine in the blood circulation above the normal range.


Increased proportion of transitional B cells

An elevation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.


J wave

The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point.


Distal clavicular thinning

Abnormally reduced diameter (cross section) of the clavicles that is limited to the distal region.


Focal aware hemifacial clonic seizure

Focal seizure characterized at onset by clonic movements affecting half of the face with retained awareness throughout.


Polymorphic focal epileptiform discharges

Focal epileptiform discharges of different shapes and frequencies.


Increased level of hippuric acid in blood

An increase in the level of hippuric acid in the blood.


Deep longitudinal plantar crease

Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot.


Abnormal vertebral artery morphology

An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system.


Onychotillomania

Onychotillomania is characterized by the compulsive or irresistible urge in patients to pick at, pull off, or harmfully bite or chew their nails.


Antimitochondrial antibody positivity

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


Dumbbell-shaped humerus

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


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

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


annular pancreas

Annular pancreas is a distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum.


Aplasia/Hypoplasia of the 2nd metacarpal

Aplasia or Hypoplasia affecting the 2nd metacarpal.


Abnormal circulating apolipoprotein concentration

A deviation from the normal concentration in blood of an apolipoprotein, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation.


Reticulonodular pattern on pulmonary HRCT

Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography.


Anti-NMDA receptor antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor.


Pericardial friction rub

A pericardial friction rub is a grating, to-and-fro sound that occurs in phase with the heart sounds.


Recurrent encephalopathy

Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections.


Abnormal renal medulla morphology

Any structural abnormality of the medulla of the kidney.


Functional abnormality of male internal genitalia


Recurrent parasitic infections

Increased susceptibility to parasitic infections, as manifested by recurrent episodes of parasitic infection.


Struvite nephrolithiasis

Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones).


Elevated urine aconitic acid level

An abnormally increased level of aconitic acid in the urine.


Thick hair

Increased density of hairs, i.e., and elevated number of hairs per unit area.


Glossoptosis

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


Abnormal number of dense granules

A deviation from the normal count of dense granules per thrombocyte.


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


Midline liver

Position of the liver across the middle of the body instead of being in its normal position to the right of the stomach.


Abnormal CSF phenylalanine concentration

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


Hyperorality

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


Increased CSF glutamine concentration

Abnormally increased levels of glutamine in cerebrospinal fluid.


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


Anti-MAP1B antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against microtubule-associated protein 1B (MAP1B).


Aplasia of the proximal phalanx of the 2nd toe


Abnormal carotid artery morphology

Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches.


Short middle phalanx of the 5th toe

Developmental hypoplasia of the middle phalanx of the 5th toe.


Median cleft lip and palate

Cleft lip or palate affecting the midline region of the palate.


Decreased CSF/serum albumin ratio

A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration.


Ivory epiphyses of the phalanges of the hand

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


Stippling of the epiphysis of the 1st metatarsal


Osteolysis involving bones of the lower limbs


Toe extensor amyotrophy

Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes.


Strawberry tongue

Inflammed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry.


Tryptophanuria

An increased concentration of tryptophan in the urine.


Cobblestone-like hyperkeratosis

The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones.


Decreased CSF threonine concentration

Abnormally decreased levels of threonine in cerebrospinal fluid.


Abnormal cervical curvature

The presence of an abnormal curvature of the cervical vertebral column.


Moderate hearing impairment

The presence of a moderate form of hearing impairment.


Invasive parasitic infection

A parasitic infection whereby the parasite invades (migrates through) tissues of the infected host.


popliteal cyst

A synovial cyst located in the back of the knee, in the popliteal space arising from the semimembranous bursa or the knee joint.


Anti-envoplakin antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against envoplakin, a cytoskeletal linker protein that links intermediate filaments to cellular junctions.


proximal spinal muscular atrophy

Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.


Abnormal proportion of naive T cells

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


Hepatojugular reflux

The examiner applies firm but persistent pressure over the liver for 10 seconds while observing the mean jugular venous pressure. Normally there is either no rise or only a transient (i.e., 2 to 3 sec) rise in mean jugular venous pressure. A sustained increase in the mean venous pressure until abdominal compression is released is abnormal and indicates impaired right heart function. This abnormal response is called hepatojugular reflux.


Partial duplication of the phalanges of the 3rd finger

A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.


Abnormal aortic valve cusp morphology

Any structural anomaly of the aortic valve leaflets.


Elevated circulating glutaric acid concentration

An increased concentration of glutaric acid in the blood.


Hypoplasia of the vagina

Developmental hypoplasia of the vagina.


Increased level of L-fucose in urine

An increase in the level of L-fucose in the urine.


Abnormality of the distal tibial epiphysis


Abnormal medullary peritubular capillary morphology

Anomalous structure of the peritubular capillaries located in the medulla of the kidney.


Ambiguous genitalia, male

Ambiguous genitalia in an individual with XY genetic gender.


Right aortic arch with mirror image branching

The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery.


Abnormal hepatic artery morphology

Any structural anomaly of the hepatic artery or its branches.


Abnormal dentin morphology

Any abnormality of dentin.


Partial duplication of the distal phalanx of the 2nd toe

Partial duplication of the distal phalanx of second toe.


Horizontal crus of helix

An abnormal horizontal axis orientation of the crus of the helix. That is, the main axis of the crus of the helix is perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly.


Pseudoepiphysis of the proximal phalanx of the thumb

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


Pelvic kidney

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


Abnormal ethmoid bone morphology

An abnormality of the ethmoid bone


Fractured proximal phalanx of digit 4

A partial or complete breakage of the proximal phalanx of digit 4.


Increased circulating ACTH level

An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.


Anal stenosis

Abnormal narrowing of the anal opening.


Neonatal multifocal clonic seizure

Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups, which occurs at multiple sites.


Trigeminal anesthesia

Decreased or absent sensation in the distribution of the trigeminal nerve, which provides tactile, proprioceptive, and nociceptive sensation in the area of the face and mouth.


Anti-histidyl tRNA synthetase antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against histidyl tRNA synthetase.


Hyperextensibility of the knee

The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh).


Subaortic ventricular septal bulge

A localized hypertrophy of the subaortic segment of the ventricular septum has been frequently described in elderly persons, and variously termed subaortic ventricular septal bulge (VSB), sigmoid-shaped septum, localized or discrete upper septal hypertrophy.


Snout reflex

A type of primitive reflex that is elicited by tapping the upper lip lightly. The contraction of the muscles causes the mouth to resemble a snout.


Fractured carpal bone

A partial or complete breakage of the carpal bone.


Clinodactyly of the 5th toe

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


Thyroid dysgenesis

A congenital condition characterized by hypoplasia, absence, or ectopic position of the thyroid gland. It is manifested with congenital hypoparathyroidism.


Foamy urine

Urine has an increased amount of frothy fine bubbles.


Lower limb phocomelia

Phocomelia affecting only the lower limbs.


Mesomelic leg shortening

Shortening of the middle parts of the leg in relation to the upper and terminal segments.


Osteochondromyxoma

A rare benign chondroid and osteoid matrix-producing neoplasm of bone characterized by extensive myxoid changes. OMX originate from bony cortices and have been observed in the nasal region, as well as the tibia and radius.


Agenesis of pineal gland

Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present.


Bullet-shaped proximal phalanx of the 2nd toe

An abnormal morphology of the proximal phalanx of the 2nd toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Decreased circulating thyroxine-binding globulin concentration

A reduction from the normal concentration of thyroxine-binding globulin (TBG) in the blood circulation.


Reduced cerebral white matter volume

An abnormally low volume of the white matter of the brain.


Elevated left atrial pressure

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


1-5 finger syndactyly

Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand).


Anti-endomysial antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endomysial tissue transglutaminase 2 (tTG2).


Thickened nuchal skin fold

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


Monoclonal elevation of IgG light chain

A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a light chain but not a heavy chain.


Monocarboxylic aciduria

Level of a monocarboxylic acid in the urine above the upper limit of normal. A monocarboxylic acid is an oxoacid containing one carboxy group.


Purulent parotid gland drainage

Excretion of pus (purulent discharge) from the opening of the parotid duct.


Disturbance of facial expression

An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed.


Elevated circulating tetradecanoylcarnitine concentration

Elevated circulating tetradecanoyl concentration.


Complete heart block with narrow QRS complexes

A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex.


Spindle-shaped finger

Swelling of the hand at the knuckles, that gives the fingers a spindle shape (i.e., a round stick with tapered end and a broader base).


Generalized hypoplasia of dental enamel

A generalized form of developmental hypoplasia of the dental enamel.


Elevated urine 2-hydroxy-3-methylvaleric acid level

Amount of 2-hydroxy-3-methylvaleric acid in the urine above the upper limit of normal. 2-Hydroxy-3-methylpentanoic acid or 2-hydroxy-3-methylvaleric acid (HMVA) is an organic acid generated by L-isoleucine metabolism.


Malalignment of the great toenail

A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges.


Visceral epithelial cell detachment

Detachment of visceral epithelial cells (podocytes) from underlying glomerular basement membrane with intervening new loose basement membrane material (pale on Hematoxylin and eosin, periodic acid-Shiff, trichrome, or silver stain) forming a so-called 'halo'.


Fusion of the caudate and putamen

Abnormal joined appearance of the caudate and putamen with an absence of the anterior limb of the internal capsule.


Abnormal male internal genitalia morphology

An abnormality of the male internal genitalia.


Iliac artery aneurysm

Abnormal outpouching or sac-like dilatation in the iliac artery.


Osteolytic defects of the phalanges of the 4th finger

Osteolytic defects of the phalanges of the 4th (ring) finger.


Reduced insulin-like factor 3 level

Blood concentration of insulin-like factor 3 (ILF3) is below normal limits.


Small scrotum

Apparently small scrotum for age.


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

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 5th toe.


Increased anti-food allergen IgE antibody level

Increased level of IgE antibody against proteins found in foods, such as milk, egg, soy, wheat, peanut, treenut, fish, and shellfish.


Reduced pancreatic beta cells

Reduced number of beta cells in the pancreatic islets of Langerhans.


Fragmentation of the epiphysis of the middle phalanx of the 4th toe


Low voltage EEG

EEG with an amplitude less than 30 microvolts without observable occipital alpha rhythm (8-13 Hz).


Elevated circulating guanidinoacetic acid concentration

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


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

A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by retained awareness throughout the seizure.


Fragmentation of the epiphyses of the 3rd toe


schneckenbecken dysplasia

Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.


Childhood-onset truncal obesity

Truncal obesity with onset during childhood, defined as between 2 and 10 years of age.


Abnormal response to insulin tolerance test

An anomalous response to the insulin tolerance test (ITT), in which insulin is administered intravenously and blood glucose and potentially other compounds are measured at intervals. Insulin administration is intended to induce extreme hypoglycemia (bloodgluoce below 40 mg/dl), which in turn induces release of adrenocorticotropic hormone (ACTH) and growth hormone (GH). ACTH induces the adrenal gland to release cortisol, which together with GH opposes the action of insulin on the blood glucose level.


Short stature

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).


Reduced volume of central subdivision of bed nucleus of stria terminalis

A diminished volume of the central part of the bed nucleus of the stria terminalis.


Premature loss of permanent teeth

Premature loss of the permanent teeth.


Abnormal cellular phenotype

An anomaly of cellular morphology or physiology.


Skin plaque

A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter.


meningocele

A congenital abnormality in which the meninges protrude through a defect in the spinal column or the cranium.


Abnormal venous morphology

An anomaly of vein.


Increased CD4:CD8 ratio

An abnormal elevation of the relative proportion of CD4+ to CD8+ T cells.


Pseudoepiphysis of the distal phalanx of the 3rd toe


Fractured manual digit bone

A partial or complete breakage of the manual digit bone.


Diffuse cerebral calcification

Generalized deposition of calcium salts within the brain.


Focal EEG discharges with secondary generalization

Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp.


Telangiectases of the cheeks

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


schizencephaly

Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation.


Abnormal metaphyseal trabeculation

An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone.


Myocardial eosinophilic infiltration

An increase in the number of eosinophils in myocardial tissue.


Wrist ganglion

A benign soft tissue tumor of the wrist usually found in the dorsal aspect of the wrist and communicate with the joint via a pedicle. This pedicle usually originates not only at the scapholunate ligament, but also may arise from a number of other sites over the dorsal aspect of the wrist capsule.


Triphalangeal hallux

A hallux (big toe) with three phalanges in a single, proximo-distal axis.


Syntelencephaly

Syntelencephaly is a rare malformation that consists of an abnormal midline connection of the cerebral hemispheres in the posterior frontal and parietal regions, with interhemispheric separation of the basal forebrain, anterior frontal lobes, and occipital regions.


Renal hypoplasia/aplasia

Absence or underdevelopment of the kidney.


Aplasia of the inner ear

Absence of the inner ear due to a developmental defect.


Irregular epiphysis of the proximal phalanx of the 3rd finger

Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger.


Thickening of the lateral border of the scapula


Bone-in-a-bone appearance of carpal bones

The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones.


pineocytoma

Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis.


Elevated circulating long chain fatty acid concentration

Increased concentration of long-chain fatty acids in the blood circulation.


Bullet-shaped distal phalanx of the 5th toe

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


Abnormal temper tantrums

Temper tantrums are brief episodes of extreme, unpleasant, and sometimes aggressive behaviors in response to frustration or anger, which are a normal part of development in toddlers. Temper tantrums that occur more frequently in a given time and/or are more severe in symptomatology and/or longer in duration and/or inappropriate for the given age compared to a temper tantrum that naturally occurs as a part of the developmental process are classified as abnormal temper tantrums.


Renal arteriole medial hypertrophy

Increased thickness of middle layer of the arterioles of the kidney.


Platystencephaly

Extreme width of the skull in the occipital region, with anterior narrowing and prognathism.


Fragmentation of the epiphysis of the middle phalanx of the 3rd toe


Abnormality of peripheral nerve conduction

An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS).


Short attention span

Reduced attention span characterized by distractibility and impulsivity.


Patchy sclerosis of middle phalanx of finger

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


Short humerus

Underdevelopment of the humerus.


Contracture of the metacarpophalangeal joint of the 4th finger

Chronic loss of joint motion of the metacarpophalangeal joint of the 4th finger due to structural changes in non-bony tissue.


Interrupted aortic arch type A

Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus.


Abnormal proportion of unswitched memory B cells

A deviation of the normal proportion of unswitched memory B cells in circulation relative to the total number of B cells.


Abnormal circulating calcium-phosphate regulating hormone concentration

Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium.


congenital genu recurvatum

An abnormal alignment of the knee backwards that is due to a deformity in the knee joint.


Genital neoplasm

A tumor (abnormal growth of tissue) of the genital system.


Pseudoepiphysis of the 3rd metacarpal

The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.


Brachycephaly

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


Decreased circulating ACTH concentration

The concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), is below the lower limit of normal in the blood circulation.


Cerebral granulomatosis

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


Scrotal hyperpigmentation

Increased pigmentation (skin color) of the scrotum.


Psychic epileptic aura

Aura with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events.


Subpleural honeycombing

So-called honeycombs (variably sized cysts in a background of densely scarred tissue) located in the subpleural space.


Uplifted earlobe

An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly.


Monotonic speech

A speech pattern characterized by an abnormal lack of tone in the voice.


Decreased proportion of naive CD8 T cells

An abnormally reduced proportion of naive CD8 T cells relative to the total number of T cells.


Episodic quadriplegia

Intermittent episodes of paralysis of all four limbs.


Freckled genitalia

One or more brown punctate macules on the skin of the genitalia.


Arcuate artery intima/media arteriosclerosis

Thickening of the intima of the arcuate arteries of the kidney with fibrosis and/or duplication of the elastic lamina.


Abnormal buccal mucosa morphology

An abnormality of a buccal mucosa.


Grade IV preterm intraventricular hemorrhage

Intraventricular hemorrhage that occurs in a preterm infant and that shows parenchymal extension.


Recurrent hypoglycemia

Recurrent episodes of decreased concentration of glucose in the blood.


Osteolytic defects of the proximal phalanx of the hallux


Hypotriglyceridemia

An decrease in the level of triglycerides in the blood.


focal hand dystonia

A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions.


Aplasia of the proximal phalanx of the 2nd finger

Absence of the proximal phalanx of the 2nd finger.


Anti-transglutaminase 6 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transglutaminase 6.


Stippling of the epiphysis of the proximal phalanx of the 4th toe

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


Abnormality of neutrophils

A neutrophil abnormality.


Delayed vertebral ossification

A decrease in the amount of mineralized bone in one or more vertebrae compared with that expected for a given developmental age.


Abnormal posterior cranial fossa morphology

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


Decreased Achilles reflex

Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed.


Dysplastic iliac wing

A general term that describes a congenital defect in the iliac wing resulting from abnormal development.


Elevated dermal desmosine content

An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin.


Tented philtrum

Prominence of a triangular soft tissue area of the philtrum with the apex to the columella.


Hypomagnesiuria

An decreased concentration of magnesium the urine.


Plantar crease between first and second toes

The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot located between the first and second toe.


Double inlet to single ventricle with two atrioventricular valves


Focal sensory seizure with vestibular features

A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation as its first clinical manifestation.


Aplasia/Hypoplasia involving the shoulder musculature

Absence or underdevelopment of the muscles of the shoulder.


Vivid hallucination

Perceptual experiences that are vivid, intense, and sensory in nature occur in the absence of corresponding stimuli from the external environment.


Lumbar hemivertebrae

Absence of one half of the vertebral body in the lumbar spine.


Prolinuria

Level of proline in the urine anove the upper limit of normal.


Severe postnatal growth retardation

Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms.


Small toe

Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual.


Short middle phalanx of the 2nd finger

Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger.


Reduced brain lactate level by MRS

A decrease in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).


Nonossified fifth metatarsal

The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible.


Elevated urinary S-sulfocysteine level

Level of S-sulfocysteine high in urine above the upper limit of normal.


Hyperoxemia

An abnormally high level of blood oxygen.


Abnormal CSF ornithine concentration

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


Proximal muscle weakness in upper limbs

A lack of strength of the proximal muscles of the arms.


Triangular shaped distal phalanx of the hallux


Radial bowing

A bending or abnormal curvature of the radius.


Abnormal bone ossification

Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.


Cortical radial artery intima/media multilamellation

Myointimal hyperplasia of the inner and middle layer of the cortical radial artery (also known as the interlobular artery) of the kidney, arranged in multiple concentric layers.


Absent keratohyalin granules

Lack of keratohyalin granules, which are normally present in the stratum granulosum of the epidermal layer of the skin.


Easy fatigability

Increased susceptibility to fatigue.


Lafora bodies

An intraneuronal inclusion body composed of acid mucopolysaccharides.


Uric acid urolithiasis independent of gout


Fractured proximal phalanx of manual digit 1

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


Gastric pseudomass

At US examination from the second trimester onward, the fetal stomach appears as a uniformly anechoic, sharply circumscribed round structure in the left upper quadrant. However, debris is commonly visualized in the stomach, forming a pseudomass.


Ectopic accessory finger-like appendage

In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the ulnar side of the hand, next to the little finger), preaxial (on the radial side of the hand, next to the thumb) or mesoaxial (somewhere central, between thumb and little finger), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200).


Perilobar nephrogenic rest

A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe.


Abnormal terminal:vellus ratio

A deviation from the normal proportion of terminal to vellus hairs.


Abnormality of vitamin metabolism

An anomaly in the metabolism of a vitamin.


EEG with periodic abnormalities

Periodically recurring abnormalities in the EEG.


Nausea and vomiting

Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.


Cerebral hypoplasia

Underdevelopment of the cerebrum.


Perianal abscess

The presence of an abscess located around the anus.


Sclerosis of the proximal phalanx of the 4th finger


Early onset absence seizures

Typical absence seizures starting before the age of 4 years.


Afebrile (less than 38.0 degrees Celcius), brief, and generalized seizures accompanying gastroenteritis without an alternative cause.


Perioral spasm

A sudden involuntary contraction of the musculature surrounding the mouth.


Neutrophilia in presence of infection

An increased number of neutrophils circulating in the blood during an infection, such as with a bacteria, virus or fungus.


Perilobar nephroblastomatosis

Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar).


Occasional neurofibromas

Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1.


Abnormal circulating purine concentration

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


Cephalohematoma

Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum.


Mesangial microfibril deposition

Unbranched noncollagenous microfibrils within the mesangial matrix, composed of proteins not present within the glomerular basement membrane (GBM), most notably fibrillin-1, that attach to mesangial cells and GBM structural proteins.


Decreased adipose tissue around neck

Reduced amount of adipose tissue in the region of the neck.


dentin dysplasia type I

Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD) characterized by sharp conical short roots or rootless teeth.


Cerebral hyaline bodies

Cerebral eosinophilic, discrete, intracytoplasmatic inclusions of unknown significance.


Abnormal CSF protein concentration

Any deviation from the normal range of a protein concentration in the cerebrospinal fluid.


Abnormal germ cell morphology

Any structural anomaly of a reproductive cell.


Patchy palmoplantar hyperkeratosis

A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected.


Type V atherosclerotic lesion

Type V lesions are defined as lesions in which prominent new fibrous connective tissue has formed. When the new tissue is part of a lesion with a lipid core (type IV), this type of morphology may be referred to as fibroatheroma or type Va lesion. A type V lesion in which the lipid core and other parts of the lesion are calcified may be referred to as type Vb. A type V lesion in which a lipid core is absent and lipid in general is minimal may be referred to as type Vc. With these lesions, arteries are variously narrowed, generally more than with type IV. Importantly, as with type IV lesions, type V lesions may develop fissures, hematoma, and/or thrombus (type VI lesion), and for this reason too they are clinically relevant.


Abnormal circulating creatinine concentration

An abnormal concentration of creatinine in the blood.


Intracranial neurenteric cyst

A neurenteric cyst located within the skull.


Irregular epiphyses of the 2nd finger

Irregular radiographic opacity of the epiphyses of the 2nd finger.


Toe pain

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


Adrenal gland agenesis

Absent development of the adrenal gland.


Increased urinary hypoxanthine level

The concentration of hypoxanthine in the urine, normalized for urine concentration, is above the upper limit of normal.


Squared superior portion of helix

Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual.


Nasal mucosa telangiectasia

Telangiectasia of the nasal mucosa.


Anti-alanyl-tRNA synthetase antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against alanyl-tRNA synthetase.


triatrial heart

A rare congenital abnormality of the heart characterized by the presence of three atria. The right or left atrium is divided into two parts by fibromuscular tissue or a membrane. It may be associated with other heart congenital abnormalities.


Polymicrogyria in parasagittal and mesial aspects of parieto-occipital cortex.


Contracture of the distal interphalangeal joint of the 4th toe

The distal interphalangeal joint of the 4th toe cannot be straightened actively or passively.


Tubulointerstitial fibrosis

A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial lfibrosis and/or Renal tubular atrophy.


EEG with continuous slow activity

EEG showing diffuse slowing without interruption.


Prominent digit pad

A soft tissue prominence of the ventral aspects of the fingertips or toe tips.


Impairment of fructose metabolism

An impairment of a fructose metabolic process.


Abnormal pancreatic duct morphology

Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and transports them to the duodenum.


Abnormality of the epiphysis of the middle phalanx of the 5th finger

Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.


Trichoschisis

Transverse fractures through the hair shafts (trichoschisis). Trichoschisis is characterized by a sharp transverse fracture of the hair shaft.


Prominent proximal interphalangeal joints


Gastrostomy tube feeding in infancy

Feeding problem necessitating gastrostomy tube feeding.


Enlarged epiphyses of the phalanges of the hand

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


EEG with photoparoxysmal response grade II

Occurence of epileptiform discharges in occipital and central regions during photic stimulation.


Acral blistering

Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet).


Abnormal proportion of CD8-positive T cells

Any abnormality in the proportion of CD8 T cells relative to the total number of T cells.


Partial right sided absence of pericardium

A congenital anomaly with lack of part of the pericardium on the righthand side of the heart.


Abnormal limb epiphysis morphology

An anomaly of one or more epiphyses of a limb.


1-4 finger syndactyly

Syndactyly with fusion of fingers one to four.


Spinal epidural abscess

Spinal epidural abscess (SEA) is caused by a suppurative infection in the epidural space. The mass effect of the abscess can compress and reduce blood flow to the spinal cord, conus medullaris, or cauda equina.


Aplasia of the distal phalanx of the hallux


Focal aware emotional seizure with agitation

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


Absent bronchoalveolar dimeric surfactant-protein B

Significantly decreased level or failed detection of surfactant protein B in broncho-alveolar lavage fluid.


Elevated urinary homogentisic acid

An increased amount of homogentisic acid in the urine.


Fractured tibia

A partial or complete breakage of the tibia.


Increased circulating isovaleric acid concentration

Increased concentration of isovaleric acid, a C5, branched-chain saturated fatty acid, in the blood concentration.


Clouston syndrome

Clouston syndrome (or hidrotic ectodermal dysplasia) is characterized by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.


Gallbladder wall thickening

Abnormal increased in the thickness of the wall of the gallbladder.


Prominent metopic ridge

Vertical bony ridge positioned in the midline of the forehead.


Sclerosis of the distal phalanx of the 3rd toe

An elevation in bone density in the distal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Urinary excretion of sialylated oligosaccharides

Excretion of oligosaccharides conjugated to sialic acid in the urine.


Abnormal uterus morphology

Any anomaly of the structure of the uterus


Abnormal circulating albumin concentration

Deviation from normal concentration of albumin in the blood.


Splenogonadal fusion

Joining of the spleen and a gonad during embryological development.


Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia

A focal cognitive seizure with receptive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.


Exstrophy

Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall.


Fixation-off epileptiform discharges

Fixation off sensitivity (FOS) is characterized by posterior or generalized epileptiform discharges that consistently occur with conditions that eliminate central vision, such as closed eyes, complete darkness, modified Ganzfeld stimulation (using a large white surface without visual cues), and Frenzel lenses. The FOS electroencephalogram (EEG) pattern usually consists of spikes/polyspikes and waves localized in occipital regions (bilateral or unilateral) or generalized discharges. It is usually inhibited by fixation of gaze, observing patterns, or intermittent photic stimulation (e.g., flashing light or patterns used as stimuli during the recording of the EEG).


Female hypogonadism

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


argininosuccinic aciduria

Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.


Ivory epiphyses of the 4th finger

Sclerosis of the epiphyses of the 4th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


Abnormal hypnopompia

Abnormal transition of consciousness from sleeping to wakefulness.


Partial duplication of the proximal phalanx of the 3rd toe

Partial duplication of proximal phalanx of third toe.


Microcephalic sperm head

Decreased size of the head of sperm.


Anti-H4 antibody positivity

The presence of autoantibodies in the blood circulation that react against histone H4.


Fractured epiphysis of fifth metacarpal bone

A partial or complete breakage of the epiphysis of fifth metacarpal bone.


Abnormality of neuronal migration

An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain.


Atresia of the external auditory canal

Absence or failure to form of the external auditory canal.


Triangular shaped middle phalanx of the 3rd finger

Triangular shaped middle phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Reduced total lung capacity

Abnormally reduced volume of air in the lungs upon the maximum effort of inspiration.


Hypoglutaminemia

Decreased amount of glutamine in the blood.


Cone-shaped epiphysis of the middle phalanx of the 3rd toe


Humeral lytic defects

Destruction of an area of humerus bone due to a disease process, such as cancer.


Complete bilateral cleft lip

Bilateral cleft lip in which the cleft lip on both sides is complete, i.e. start from the bottom of the upper lip and reach the nasal cavity.


Cerebral ventricular adhesions

Bands of scar-like tisssue that hve formed within a cerebral ventricle.


Spontaneous cerebrospinal fluid leak

A spontaneous cerebrospinal fluid leak (SCSFL) is a spontaneous and unexplained leak of the cerebrospinal fluid from the dura surrounding either the brain (cranial leak) or spine (spinal leak).


Aphalangy of the hands

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


Underfolded superior helices

A condition in which the superior portion of the helix is folded over to a lesser degree than normal.


Abnormal coccyx morphology

Any structural abnormality of the coccyx.


Increased CSF L-alloisoleucine concentration

An abnormally increased concentration of L-alloisoleucine in the cerebrospinal fluid (CSF).


Anti-MDA5 antibody positivity

The presence of autoantibodies in the serum that react to Anti-MDA5 (Anti-melanoma differentiation-associated proteine 5).


Abnormal angiostatin level

A deviation from the normal concentration in the circulation of angiostatin, an endogenous angiogenesis inhibitor, which blocks the growth of new blood vessels.


Mild conductive hearing impairment

A mild form of conductive hearing impairment.


Elevated urine tiglylglycine level

Amount of tiglylglycine in the urine above upper limit of normal.


Torsion of the penis

Rotated position of the glans, with or without the penile shaft, of 30 degrees or more.


Abnormal HDL3a concentration

Any deviation from the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.


Platelet antibody positive

The presence in the serum of autoantibodies directed against thrombocytes.


Abnormal blood inorganic cation concentration

An abnormality of divalent inorganic cation homeostasis.


bilirubin encephalopathy

A rare neurologic disorder occurring in infants with jaundice. It results from brain damage by existing high levels of unconjugated-indirect bilirubin.


Thick oral frenulum

Increased thickness of an oral frenulum, flaps of mucous membrane that extend from the midline gingiva to the upper or lower lip.


aorto-ventricular tunnel

Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle.


Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal


Addictive video game use

The inability to regulate persistent gaming behavior is characterized by a heightened prioritization of gaming activities over regular daily tasks and responsibilities.


central nervous system cyst

A congenital or acquired cyst that is present in the central nervous system.


germinoma

A malignant germ cell tumor arising in the central nervous system. It is characterized by the presence of primitive, large malignant germ cells and lymphocytes.


Smooth muscle antibody positivity

The presence in serum of antibodies against smooth muscle.


Fractured cuboid bone

A partial or complete breakage of the cuboid bone.


Abnormal cardiomyocyte plakoglobin staining

Anomalous staining of plakoglobin in cardiomyocytes. Plakoglobin is a component of desmosomes in cardiomyocytes.


Mirror image hand polydactyly

Mirror image duplication of digits affecting the hands only.


parietal encephalocele

An encephalocele located between bregma and lambda.


Complete diaphragmatic absence of pericardium

No pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart.


Cerebellar agenesis

Cerebellar agenesis is defined by the near complete absence of cerebellar tissue with only remnants of the anterior vermis, flocculus, and/or middle cerebellar peduncles.


Abnormal nephron morphology

A structural anomaly of the nephron.


Abnormal immunoglobulin level in body fluid

An abnormal deviation from normal levels of immunoglobulins in body fluids, such as mucous.


seminoma

A radiosensitive malignant germ cell tumor found in the testis (especially undescended), and extragonadal sites (anterior mediastinum and pineal gland). It is characterized by the presence of uniform cells with clear or dense cytoplasm which contains glycogen, and by a large nucleus which contains one or more nucleoli. The neoplastic germ cells form aggregates separated by fibrous septa. The fibrous septa contain chronic inflammatory cells, mainly lymphocytes.


Pseudoepiphyses of the middle phalanges of the hand

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


Unilateral vocal cord paralysis

A loss of the ability to move the vocal fold on one side.


Cortical tubers

Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients.


Dysharmonic maturation of the hand bones

Pattern of hand-wrist development does not fit the normal sequence of ossification of the individual bones of the hand.


Abnormal ST segment

An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment.


Abnormal blood cation concentration

An abnormality of cation homeostasis.


Shoulder dislocation

A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation.


Disseminated molluscum contagiosum

The presense of molluscum contagiosum lesions across multiple areas of the body.


Cognitive distortion

A cognitive distortion is a maladaptive, exaggerated, or irrational thought pattern.


Complete duplication of distal phalanx of the thumb

Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side.


Pulmonary amyloidosis

Extracellular deposition in lung tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding.


Curved middle phalanx of the 3rd toe

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


Prominent ear helix

Abnormally prominent ear helix.


Monoclonal elevation of IgG

An increase in circulating immunoglobulins characterized by a single band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.


Upturned corners of mouth

Oral commissures positioned superior to the midline labial fissure.


Abnormal antihelix morphology

An abnormality of the antihelix.


Medium chain dicarboxylic aciduria

An increase in the level of medium chain dicarboxylic acid in the urine.


Triangular epiphysis of the distal phalanx of the hallux


Hypnagogic sleep paralysis

Sleep paralysis that occurs when falling asleep.


Decreased serum leptin

A decreased concentration of leptin in the blood.


Lichenification

Thickening and hardening of the epidermis seen with exaggeration of normal skin lines.


Delayed fine motor development

A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands.


Osteolysis involving tarsal bones

An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones.


Enlarged epiphyses of the 2nd finger

Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms.


Renal arteriole intima/media liquefactive necrosis

A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.


Elevated circulating C5 acylcarnitine concentration

Concentration of C5 acylcarnitines in the blood circulation above the upper limit of normal. C5 acylcarnitines have a five-carbon acyl chain.


Anti-21-hydroxylase antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against 21-hydroxylase.


Abnormal left ventricular ejection fraction

Any abnormality of the left ventricular ejection fraction (LVEF), which is the fraction of chamber volume ejected in systole (stroke volume) in relation to the volume of the blood in the ventricle at the end of diastole (end-diastolic volume). Stroke volume (SV) is calculated as the difference between end-diastolic volume (EDV) and end-systolic volume (ESV). LVEF is calculated as [SV/EDV] in percent.


Ineffective esophageal peristalsis

Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus.


Abnormal talus morphology

An abnormality of the talus.


Abnormal blood sodium concentration

An abnormal concentration of sodium.


Moderate oligozoospermia

A type of oligozoospermia characterized by a total number of more than 10 but less than 29 million sperm in the ejaculate or a concentration of more than 5 but less than 10 million sperm per milliliter.


Focal sensory seizure with somatosensory features

A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move as its first clinical manifestation.


Anti-Amphiphysin antibody

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


Dysgenesis of the cerebellar vermis

Defective development of the vermis of cerebellum.


Stippling of the epiphyses of the 2nd toe

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd toe.


Constitutional symptom

A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual.


Reduced euglobulin clot lysis time

Abnormally decreased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored.


Delayed recoil upon stretching of skin

Area of skin requiring an increased amount of time to return to its original shape after being stretched.


Contracture of the proximal interphalangeal joint of the 4th toe

The proximal interphalangeal joint of the 4th toe cannot be straightened actively or passively.


Fractured metatarsal bone of digit 1

A partial or complete breakage of the metatarsal bone of digit 1.


Decreased level of 1,5 anhydroglucitol in serum

A decrease in the level of 1,5 anhydroglucitol in the serum. 1,5-Anhydrosorbitol is a validated marker of short-term glycemic control. This substance is derived mainly from food, is well absorbed in the intestine, and is distributed to all organs and tissues.


Abnormal PR interval

An anomaly of the PR interval, which is the portion of the ECG from the onset of the P wave to the beginning of the QRS complex. A normal PR interval in adults is 0.12-0.2 seconds.


hyperhidrosis palmaris ET plantaris

An abnormally increased perspiration on palms and soles.


verrucous nevus

A benign wart-like, pigmented skin lesion appearing on various parts of the body at birth or early in childhood, usually in linear groupings.


Ulnar radial head dislocation

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


Increased anti-egg IgE antibody level

Increased level of IgE antibody against eggs, including egg whites, egg yolks, and egg proteins such as ovoalbumin and ovomucoid.


Symmetric spinal nerve root neurofibromas

Multiple neurofibromas of the spinal nerve roots with a symmetric distribution.


Morgagni-Stewart-Morel syndrome

Morgagni-Stewart-Morel syndrome is characterized by thickening of the inner table of the frontal bone, sometimes associated with obesity and hypertrichosis. It mainly affects women over 35 years of age. The prevalence and clinical significance of hyperostosis frontalis interna is unknown. Transmission is either X-linked or autosomal dominant.


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


Osteolytic defects of the middle phalanx of the 4th finger

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


Pigment incontinence

A process in which melanosomes (melanin granules) are deposited in the dermis. The dermal melanosomes are observed to be mainly in macrophages. This phenomenon of pigmentary incontinence usually follows an inflammatory process with the basic feature of basal cell damage, such as in lichen planus, lupus erythematosus, Riehl's melanosis, incontinentia pigmenti (Bloch-Sulzberger), and fixed drug eruption. Incontinence of pigment, or dropping off of epidermal melanin into the dermis, frequently produces a clinically recognizable and characteristic slate-gray pigmentation.


Duplication of the proximal phalanx of hand

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


Periorbital hyperpigmentation

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


Transient decreased circulating IgG1

A temporary reduction beneath the normal level of total immunoglobulin G1 (IgG1) in the blood circulation.


Abnormal soft palate morphology

An abnormality of the soft palate.


Battle sign

Battle sign is bruising over the mastoid process that is typically the result of head trauma. It is retroauricular or mastoid ecchymosis that is typically the result of head trauma. Battle sign typically requires significant head trauma and may indicate significant internal injury to the brain and not just the posterior cranial vault or mastoid.


CSF lymphocytic pleiocytosis

An increased lymphocyte count in the cerebrospinal fluid.


Abnormal biliary tract physiology

A functional abnormality of the biliary tree.


Enlarged epiphysis of the middle phalanx of the 5th finger

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


Enlarged epiphysis of the proximal phalanx of the 2nd toe


Intra-oral hyperpigmentation

Increased pigmentation, either focal or generalized, of the mucosa of the mouth.


Tapered sperm head

Sperm with cigar-shaped heads that gradually dimish in diameter (taper).


mitochondrial trifunctional protein deficiency

Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..


Neoplasm of the nail

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


Fifth metacarpal with ulnar notch

Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger).


Elevated circulating saccharopine concentration


angiolipoma

A lipoma with prominent vascularity. The vascular tissue is more abundant at the periphery of the tumor and contains fibrin thrombi. It occurs more frequently in younger individuals as a painful subcutaneous nodule, often on the arms.


Aortic root aneurysm

An abnormal localized widening (dilatation) of the aortic root.


hypophosphatemic rickets

Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D.


Aggression towards others

Aggression that is directed towards other individuals, as opposed to oneself.


Abnormal PR segment

An anomaly of the PR segment, which begins at the endpoint of the P wave and ends at the onset of the QRS complex. The PR segment is normally flat and isoelectric.


Abnormal insulin like growth factor binding protein acid labile subunit level

A deviation from the normal blood concentration of the insulin like growth factor binding protein acid labile subunit (IGFALS; Entrez Gene ID 3483). The acid-labile subunit (IGFALS) acts in the insulin-like growth (IGF) system by binding circulating IGF1 in a ternary complex with binding protein (IGFBP)-3 to prevent IGF1 from crossing the endothelial barrier.


Partial duplication of the phalanges of the 5th finger

A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 5th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.


Fetal chylothorax

The presence of chyle (a type of lipid-rich lymph) in the pleural space (the space surrounding the lung) as observed in a fetus.


Small epiphysis of the proximal phalanx of the 3rd toe


Orbital rhabdomyosarcoma

A mesenchymal tumor that is considered to be the commonest primary orbital malignancy in children. Histologically, it may be differentiated into embryonal, alveolar, and pleomorphic types. It is usually intraconal or within the superior orbit.


ovarian fibroma

A benign neoplasm arising from soft tissue of the ovary. It is characterized by the presence of spindle-shaped fibroblasts.


Symmetric polyarthritis

Polyarthritis refers to a joint disease that involves at least five joints. One or more signs of inflammation, including pain, movement restriction, swelling, warmth, and redness, are seen in the joints involved. Polyarthritis is defined as symmetric if at least half of the joints involved are affected in a symmetric (i.e., both right and the left) fashion.


Abnormal pineal volume

An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland.


Subepithelial glomerular basement membrane electron dense deposits

Prominent glomerular basement membrane (GBM) reflecting a diffuse and relativly uniform increase in thickness (subjective estimate) with exogenous material deposited between the outer (epithelial) aspect of the GBM and the visceral epithelial cell, with varying degrees of incorporation into the GBM.


Increased hemoglobin concentration

An abnormal elevation above normal hemoglobin concentration in the circulation.


Partial duplication of the middle phalanges of the hand

A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the middle phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.


Umbilicated nodule

A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated).


Jaw contracture

Limitation of motion of the jaw due to structural changes in a muscle such as the massseter responsible for jaw movement.


Howell-Jolly bodies

Howell-Jolly bodies are small, intra-erythrocytic remnants of erythrocyte nuclei. These inclusions are solitary in each erythrocyte and strongly basophilic. These are often confused with overlying platelets, but can be distinguished by the presence of a halo around overlying platelets.


Abnormal urine metabolite level

Any deviation from the normal amount of a metabolite in urine.


Micronodular cirrhosis

A type of cirrhosis characterized by the presence of small regenerative nodules.


Renal tubular atrophy

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


Abnormal labia majora morphology

An anomaly of the outer labia.


Testicular lipomatosis

Multiple foci of adipocytes within the testicular interstitium, usually presenting as multiple bilateral ill-defined hyperechoic intratesticular lesions of different sizes but generally with maximum diameter of 4 mm.


Round spermatid arrest

A failure of spermatogenesis to progress beyond the round spermatid stage. The round spermatid is the first haploid cells produced during spermatogenesis and normally further develop into mature spermatozoa. This abnormality can be visualized with testicular biopsy and is characterized seminiferous tubules with increased numbers of round spermatids with few or no mature spermatozoa.


Elevated urine N-acetylaspartic acid level

Amoutn of N-acetylaspartate high in the urine above upper limit of normal.


Abnormal platelet granules

An anomaly of alpha or dense granules or platelet lysosomes.


Decreased urine bicarbonate concentration

Abnormally decreased concentration of hydrogencarbonate in the urine.


Elevated urine 3-hydroxypropionic acid level

Amount of 3-hydroxypropionic acid in the urine above the upper limit of normal.


Increased anti-seafood IgE antibody level

Increased level of IgE antibody against seafood, including fish, shrimp, lobster, crab, squid and abalone.


Gastric xanthoma

Gastric xanthomas (also known as xanthelasmas) are are plaque-like red lesions defined by the presence of histiocytic containing lipids.


Elevated circulating palmitoylcarnitine concentration

Abnormally increased concentration of palmitoylcarnitine in the blood circulation.


Increased length of the tibia

An abnormal increase in the length of the tibia.


Hypoplasia of mandible relative to maxilla

Abnormally small dimension of the mandible (lower jaw) relative to the maxilla (upper jaw).


Enlarged epiphyses of the distal phalanges of the hand


Aplasia of the parotid gland

Absence of the parotid gland.


Elevated circulating alpha-fetoprotein concentration

Concentration of alpha-fetoprotein in the blood circulation above the upper limit of normal.


Abnormality of the incisor

An abnormality of the Incisor tooth.


Abnormal heart rate variability

Any abnormality in the variability of the time interval between successive heartbeats.


penoscrotal transposition

Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).


Osteolytic defects of the middle phalanx of the 4th toe


Focal aware cognitive seizure with left-right confusion

A focal cognitive seizure with left-right confusion characterized by retained awareness throughout the seizure.


Abnormal renal echogenicity

Anomalous echogenicity of the kidney on ultrasound examination.


Abnormal thought pattern

Abnormal thought pattern refers to thoughts or patterns of thinking that are intrusive, obsessive, or challenging to control.


Diffuse ribbon-like subcortical heterotopia

Subcortical heterotopia consisting of a bilateral and symmetric single continuous, undulating ribbon-like layer of gray matter located in the frontal, parietal and occipital lobes. It has no visible connection to the overlying cortex.


Delusions of infestation

A persistent belief that a person is infested with living or non-living pathogens, such as parasites, insects, or bugs, when no such infestation is present.


Flexural lichenification

Lichenification affecting primarily flexural areas of the skin.


Dysplastic aortic valve

A congenital malformation of the aortic valve characterized by leaflet deformation.


hereditary leiomyomatosis and renal cell cancer

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer.


Nonfunctional or atypical use of objects in play

Use of objects in atypical, unimaginitive ways other than for which they are intended (banging, throwing, shaking, sorting, lining up, spinning).


Moderately short stature

A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex.


Isolation of the left subclavian artery

The loss of continuity between the left subclavian artery and the aorta, with persistent connection to the homolateral pulmonary artery through the patent (PDA) or nonpatent ductus arteriosus.


Abnormality of the musculature of the upper arm


Adrenocorticotropin receptor defect

Adrenal insufficiency secondary to a defect in the ACTH receptor.


Abnormal breast morphology

Any anomaly of the structure of the breast.


Atypical scarring of skin

Atypically scarred skin .


Hematocolpos

Accumulation of blood in the vagina usually due to vaginal obstruction.


Lobulated tongue

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


Increased level of platelet-activating factor


EEG with spike-wave complexes

Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


Increased placental thickness

Abnormally elevated placental thickness.


Radial deviation of thumb terminal phalanx


A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported.


Lip cyanosis

Bluish discoloration of the lips.


myoglobinuria, recurrent

An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection (febrile illness). Hypertonia, muscle stiffness and muscle pain, impaired kidney function and elevated levels of serum creatine kinase are common clinical features. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. Recently, mutations in the LPIN1 gene (chromosome 2p21) have been reported to have a causative role in three patients with recurrent episodes of myoglobinuria, originating from consanguineous families. The disorder may occur sporadically, or be inherited in either a recessive or dominant manner.


Irregular epiphysis of the distal phalanx of the 5th toe


Anti-Kelch like protein 11 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against kelch-like protein 11 (KLHL11).


pelvic lipomatosis

A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the pelvic region. Clinical presentation includes complaints of back and abdominal pain, urinary frequency, perineal pain and constipation. It predominately affects black males.


Bullet-shaped distal phalanx of the 3rd finger

Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 3rd finger is affected.


Localized area of pendulous skin

A confined region of lax skin that hangs below the level of the surrounding skin. Histopatholigically, there is a loss of elastic fibers in the dermis of the affected region.


Absence of CD8-positive T cells

Lack of detectible CD8-positive T cells


Abnormal endocardium morphology

An abnormality of the endocardium.


Focal impaired awareness cognitive seizure with neglect

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


classic phenylketonuria

Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.


Short fetal femur length

A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637).


Pectus excavatum of inferior sternum

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


Unilateral hypoplasia of pectoralis major muscle

Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest.


Abnormal dense granule content

A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated.


Abnormal capillary morphology

A structural 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.


Elevated circulating tenascin-C level

Abnormally increased concentration of tenascin-C in the blood circulation.


Severe conductive hearing impairment

A severe form of conductive hearing impairment.


Abnormal cerebellar cortex morphology

Any structural anomaly of the cortex of the cerebellum.


Liver kidney microsome type 1 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against P450 2D6, a cytochrome P450 mono-oxygenase. Anti-LKM-1 antibodies are considered to be a diagnostic marker of autoimmune hepatitis type 2 (AIH2).


conductive hearing loss disorder

Hearing loss caused by impaired transmission of signals from the external auditory canal or middle ear to the cochlea.


Cavitation of the basal ganglia

The formation of small cavities in the tissue of the basal ganglia.


Testicular mesothelioma

A Malignant mesothelioma of the testis.


Intratubular hyaline casts

A type of acellular urinary cast located within the distal tubules of the kidney and that is composed only of Tamm-Horsfall glycoprotein. Correspondingly, these casts have a low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends.


Abnormal blood zinc concentration

An abnormality of zinc ion homeostasis.


Abnormal circulating proteinogenic amino acid derivative concentration

Any deviation from the normal concentration in the blood circulation of a compound that is derived from an amino acid.


Hyperthreoninuria

An increased concentration of threonine in the urine.


Cone-shaped epiphyses of the 3rd finger

A cone-shaped appearance of the epiphyses of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.


Copper accumulation in brain

An anomalous build up of copper (Cu) in the brain.


Abnormal macroscopic urine appearance

Anomalous physical appearance (color, cloudiness, clarity) or odor of urine.


Fractured interphalangeal joint

A partial or complete breakage of the interphalangeal joint.


acral lentiginous melanoma

A form of melanoma occurring most often on the plantar, palmar, subungual, and periungual skin. It presents as a pigmented macular lesion with irregular borders. Morphologically, it consists of atypical spindled and dendritic melanocytes. The epidermis is often hyperplastic and there is pagetoid infiltration of the epidermis by anaplastic cells.


Unilateral conductive hearing impairment


Bullet-shaped proximal phalanx of the 2nd finger

Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 2nd finger is affected.


Osseous finger syndactyly

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


Increased circulating troponin I concentration

An increased concentration of tropnin I in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction.


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

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


Abnormality of the proximal phalanx of the 2nd finger


Short middle phalanx of the 3rd finger

Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger.


Webbed neck

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


Descending aortic dissection

A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.


Hemangioma of the lip

A vascular malformation located in the lip that is related to vascular endothelial cell hyperplasia.


Postauricular pit

Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit.


Bone marrow erythroid vacuolization

Formation of vacuoles (a space within a cell that is empty of cytoplasm, lined with a membrane, and filled with fluid) in the cytoplasm of erythroid precursors in the bone marrow.


Intralamellar aortic medial fibrosis

A type of aortic medial fibrosis in which the increase in collagen does not significantly alter the arrangement of the lamellar units.


dental enamel hypoplasia

Deficiency in the enamel tissue that results in the formation of grooves, pits, or dents on the surface of the affected teeth.


Rudimentary postaxial polydactyly of hands


Partial duplication of the proximal phalanx of the 2nd toe

Partial duplication of proximal phalanx of second toe.


Abnormal proerythroblast morphology

Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers.


Clinodactyly of the 3rd toe

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


Flexion contracture of the 2nd toe

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


Incomplete partition of the cochlea type II

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


Joint contracture

A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part.


Enlarged epididymis

Abnormal increase in the size of the epididymis.


familial thoracic aortic aneurysm and aortic dissection

A rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.


Decreased CSF 5-hydroxyindolacetic acid concentration

5-HIAA (5-hydroxyindolacetic acid) concentration in the cerebrospinal fluid (CSF) is below the lower limit of normal.


Thickened superior cerebellar peduncle

Increased width of the superior cerebellar peduncle.


Absent ethmoidal sinuses

Lack (aplasia) of the ethmoidal sinus.


Glomerular fibrin thrombus

An aggregate of coagulated blood containing fibrin, with or without entrapped cellular elements, within a glomerular capillary lumen.


Abnormality of the wrist

Abnormality of the wrist, the structure connecting the hand and the forearm.


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

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


Abnormal vestibular saccule morphology

Any structural anomaly of the saccule of the vestibule. The saccule is the otolith organ that senses motions in the sagittal plane (i.e., up-down movement).


Sickled erythrocytes

An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains).


Yellow skin plaque

A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter and that has a yellow color.


Lymph node xanthomatosis

Lipid deposits localized within one or more lymph nodes. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.


Abnormal urine potassium concentration

An abnormal concentration of potassium(1+) in the urine.


Hypotyrosinemia

An decreased concentration of tyrosine in the blood.


Short proximal phalanx of thumb

Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


Diffuse cerebellar atrophy

Diffuse unlocalised atrophy affecting the cerebellum.


Abnormal middle ear morphology

An abnormality of the morphology or structure of the middle ear.


Focal cortical dysplasia type III

A type of focal cortical dysplasia that is characterized by cortical lamination abnormalities associated with a principal lesion, usually adjacent to or affecting the same cortical area/lobe.


EEG with spike-wave complexes (>3.5 Hz)

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


Congenital absence of portal vein

Anomaly where the intestinal and the splenic venous drainage bypass the liver and drain into systemic veins through other possible venous shunts.