Abnormality of the epiphysis of the proximal phalanx of the hallux

In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities affecting the proximal phalanx of the hallux.


Enlarged mesenteric lymph node

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Increase in size of one or more mesenteric lymph nodes.


Abnormal renal insterstitial morphology

Any structural anomaly of the interstitium of the kidney. The renal interstitium is defined as the intertubular, extraglomerular, extravascular space of the kidney. It is bounded on all sides by tubular and vascular basement membranes and is filled with cells, extracellular matrix, and interstitial fluid.


Increased anti-plant based food allergen IgE antibody level

Increased level of IgE antibody against a plant based food allergen, including vegetables and fruits.


protein S deficiency

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Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding. Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting. When protein S is missing (deficient), clotting may not be regulatednormally and affected individuals havean increased risk of forming a blood clot called a thrombosis. People at risk to haveprotein S deficiencyare those with an individual or family history of multiple blood clots in the veins. Treatment may include taking medication known as blood thinners to decrease the chance of developing a blood clot.


Grade II preterm intraventricular hemorrhage

Intraventricular hemorrhage that occurs in a preterm infant and that has extension into normal-sized ventricles and typically fills less than 50% of the volume of the ventricle.


Increased plasma vitamin K epoxide after vitamin K supplementation is present in VKCFD (vitamin K-dependent clotting factor deficiency) type 2, but not in VKCFD type 1.


Decreased pituitary glycoprotein hormone alpha subunit level

An reduced concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081).


dysembryoplastic neuroepithelial tumor

A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface.B


Absence of pectoralis minor muscle

Aplasia (congenital absence) of the pectoralis minor.


Socially inappropriate behavior

Behavior that is not in line with social norms.


Epiphyseal stippling of toe phalanges

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the toes.


Focal aware sensory seizure with hot-cold sensations

A seizure characterized by sensations of feeling hot and then cold.


Elevated bronchoalveolar lavage fluid eosinophil proportion

Usually, eosinophils make up less than 0.5% of all cells found in the broncho-alveloar lavage fluid. But in eosinophilic lung disease, the eosinophil cell proportion typically represents more than 25%. Comment: An elevated level of eosinophil cells are also a result of infections, or an allergic reaction or can be drug-induced.


Aortic elastic fiber disorganization

Nonparallel arrangement/disarray of elastic fibers of the media of the aorta as identified on a stain for elastic fibers.


Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia

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


Apically displaced anterolateral papillary muscle

Abnormal location of the insertion of the anterolateral papillary muscle near to the apex of the left ventricle. This feature may be appreciated by noting that this muscle is usually not seen in the apical level of the parasternal short-axis echocardiographic view,


Anti-SEZ6L2 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against seizure-related 6 homolog like 2 (SEZ6L2).


Increased circulating procalcitonin concentration

An elevated concentration of procalcitonin in the blood circulation.


Broad nail

Increased width of nail.


subvalvular aortic stenosis

An aortic stenosis caused by fibromuscular stenosis or hypertrophic cardiomyopathy. It may be associated with congenital heart defects.


Elevated CSF neopterin level

Increased concentration of neopterin in the cerebrospinal fluid (CSF).


Splenopancreatic fusion

Fusion of the pancreatic tail and spleen.


Increased non-HDL cholesterol concentration

Increase above normal levels of non-HDL cholesterol in the blood. Non-HDL cholesterol is total cholesterol minus high-density lipoprotein HDL-cholesterol (high-density lipoprotein-cholesterol).


Polyclonal elevation of circulating IgG

An increase in polyclonal immunoglobulins resulting from many different plasma cells. On serum electrophoresis, a polyclonal gammopathy is characterized by a broad diffuse band with one or more heavy chains and kappa and lambda light chains.


Triangular shaped phalanges of the 2nd toe


Hearing abnormality

An abnormality of the sensory perception of sound.


split foot

A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.


Hamartoma of tongue

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


Increased sulfur amino acid level in urine

An elevated level of a sulfur-containing amino acid in the urine.


Osteolytic defects of the proximal phalanx of the 2nd finger

Dissolution or degeneration of bone tissue of the proximal phalanx of the 2nd finger.


Anti-Ki antibody positivity

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


Focal aware cognitive seizure with forced thinking

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


EEG with parietal focal spike waves

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


Craniofacial asymmetry

Asymmetry of the bones of the skull and the face.


Wide ulnar metaphysis

Increase in width (breadth) of the ulnar metaphysis.


Abnormal blood carbon dioxide level

An abnormality of carbon dioxide (CO2) in the arterial blood.


Ankle clonus

Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.


Decreased serum estriol

A reduction below normal limits of estriol in the circulation.


Agenesis of permanent teeth

A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.


Acantholysis

The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes.


Neonatal seizure with electrographic correlate

Neonatal seizure is a seizure type that occurs in neonatal period and is characterized by an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end. This event can be associated or not with a clinical manifestation.


Arcuate artery intima/media amyloidosis

Amorphous extracellular substance in the inner or middle layer of the arcuate arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy.


Partial IgA deficiency

Detectable but decreased IgA levels that are more than 2 standard deviations below normal age-adjusted means.


Bracket epiphysis of the distal phalanx of the 2nd toe


Abnormal tricuspid valve morphology

Any structural anomaly of the tricuspid valve.


Antenatal intracerebral hemorrhage

Cerebral hemorrhage that occurs before birth.


Jejunal arteriovenous malformation

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


Hypoplasia of the calcaneus

Underdevelopment of the heel bone.


nasal bones, absence of

Lack of a palpable nasal cartilage.


Increased circulating renin level

An increased level of renin in the blood.


Limitation of knee mobility

An abnormal limitation of knee joint mobility.


Supraglottic hemangioma

A hemangioma, a benign tumor of the vascular endothelial cells, located in the upper part of the larynx (voice box) including the epiglottis; the area above the vocal cords.


Abnormal preputium morphology

An abnormality of the retractable fold of skin that covers the tip of the penis.


Aplasia of the proximal phalanx of the 3rd finger

Absence of the proximal phalanx of the 3rd finger.


aortic atherosclerosis

A atherosclerosis that involves the aorta.


Toe dactylitis

Toes appear swollen and plump owing to inflammation of the complete toe.


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


Fused lips

Lack of separation of the upper and lower lips.


Abnormal morphology of the olfactory bulb

An abnormal morphology of the olfactory bulb (bulbus olfactorius), which is involved in olfaction, i.e. the sense of smell.


Bullet-shaped 4th toe phalanx

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


congenital laryngomalacia

Increased collapsibility of the larynx.


Anti-Septin-5 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Septin-5.


Delayed ability to crawl

A failure to achieve the ability to crawl at an appropriate developmental stage. Normal infant motor development is marked by a series of postural milestones including learning to crawl on hands and knees between the ages of 6 and 10 months.


Perivascular fibrosis

The presence of thick collagen bundles around blood vessels, often in an onion-skin type whorling pattern.


Impaired histidine renal tubular absorption


Intra-epidermal blistering

A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes. In simplex EB, cleave occurs in the basal layer, which is the innermost layer of the epidermis and consists of a single layer of basal germinative cells (mostly epidermal Keratinocytes) that proliferate and thereby produce new cells for other epidermal layers. As the cells move towards the upper layers of the epidermis they mature and eventually form cornified cells. The suprabasal cell layer lies directly above the basal layer and is composed of five to ten layers of cells.


Spinal rigidity

Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion.


Beau's lines

A nail dystrophy that is preseents as grooved lines that run from side to side on the fingernail or the toenail that may look like indentations or ridges on the nail plate. They are caused by temporary disruption in the growth of proximal nail matrix. Trauma is usually the initiating factor such as infections, severe medical illnesses, major surgery/anesthesia, medication side effects, and autoimmune disease.


Normal density transverse bands in metaphyses of the upper limbs


Abnormal neck physiology

Any functional anomaly of the neck region.


Cholesterol crystalluria

The presence of cholesterol crystals in the urine.


Aplasia/Hypoplasia of the cochlea

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


Scapuloperoneal amyotrophy

Muscular atrophy in the distribution of shoulder girdle and peroneal muscles.


Abnormal pulmonary valve cusp morphology

Any structural anomaly of the pulmonary valve leaflets.


adnexal spiradenoma/cylindroma of a sweat gland

A benign sweat gland neoplasm usually occurring in the scalp or the face. It may present as solitary or multiple papular or nodular lesions. It may be a sporadic lesion or part of Brooke-Spiegler syndrome. It arises from the dermis and has a multinodular, circumscribed appearance. The nodules contain basaloid cells with small, dark nuclei. Complete excision is usually curative.


Absent fetal nasal bone

The nasal bone is considered absent when it is not visualized on a midsagittal view of the profile. In the second trimester, a true midsagittal view of the fetal profile is obtained and magnified to fill the majority of the image space. The nasal bone appears as an echogenic linear structure below the skin edge. The optimal angle of insonation is 45 degrees to the longitudinal axis of the fetal nasal bone. If the angle of insonation is 0 or 180 degrees, the nasal bone may appear artificially absent. The presence or absence of the nasal bone may be determined at the time of the 11- to 14-week ultrasound examination and used as part of the risk assessment for aneuploidy.


Osteolytic defects of the middle phalanx of the 3rd toe


Anti-phosphatidyl serine antibody positivity

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


chronic mucocutaneous candidiasis

Mucocutaneous candidiasis that is persistent or long-standing in nature.


Proximal/middle symphalangism of 4th finger

Fusion of the proximal and middle phalanges of the 4th finger.


Curved distal toe phalanx

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


Absent epiphysis of the middle phalanx of the 2nd finger


Abnormality of the chin

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


Abnormal helix morphology

An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe.


Focal necrosis of right ventricular muscle cells


Anti-proteinase 3 antibody positivity

The presence of autoantibodies in the blood circulation that react against proteinase 3. Proteinase 3 (PR3) antigen is a 29-kD serine protease that exists as a protein triplet in human neutrophils


Abnormal tissue metabolite concentration

Any deviation from the normal concentration of a metabolite in a tissue.


Shawl sign

Erythematous, poikilodermatous macules distributed in a shawl pattern over the shoulders, arms and upper back.


Leukocyte cylindruria

Presence of leukocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine.


Absent cavum septum pellucidum

The cavum septum pellucidum (CSP) is an important fetal midline forebrain landmark that is normally visible by prenatal sonography. This term refers to the lack of visiblity of the CSP on prenatal sonography. The CSP normally can be visualized between 18 and 37 weeks of gestation. Lack of visualization of the CSP in this time period generally requires follow up and may indicate the presence of underlying malformations such as malformations of the corpus callosum. The lack of CSP before 18 weeks or after 37 weeks of gestation (or postnatally) is considered a normal finding.


Abnormal CSF alanine concentration

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


Abnormal arcuate artery intima/media morphology

Anomalous structure of the inner or middle layer of the arc-shaped arteries located at the border of the renal cortex and renal medulla.


Extractable nuclear antigen positivity

The presence of autoantibodies in the serum that react against extractable nuclear components that are referred to as extractable because they can be extracted from cell nuclei with saline solution.


Single coronary artery origin

The presence of a single coronary artery ostium from which both coronary arteries arise.


EEG with central epileptiform discharges

Focal epileptiform EEG discharges recorded in the central region.


Symphalangism affecting the distal phalanx of the hallux


Abnormal 2nd finger morphology

An anomaly of the second finger, also known as the index finger.


Hyperconvex fingernails

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


Increased circulating androstenedione concentration

Increased concentration of androstenedione in the blood circulation.


Reduced plasma cell count

An abnormally low number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.


Bifid nasal tip

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


Elevated plasma citrulline

An increased concentration of citrulline in the blood.


Refractory sideroblastic anemia

A type of sideroblastic anemia that is not responsive to treatment.


Spleen hamartoma

A hamartomatous lesion (benign focal lesions composed of disorganized tissue elements) localized in the spleen.


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


Abnormal form of the vertebral bodies

Abnormal morphology of vertebral body.


Aplasia/Hypoplasia of the phalanges of the 3rd toe


Thin skin

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


Symphalangism of middle phalanx of 3rd finger

Fusion of the middle phalanx of the 3rd finger with another bone.


Increased bone density with cystic changes


Coffee ground vomitus

Vomit that has the appearance of coffee grounds, which occurs due to the presence of coagulated blood in the vomit.


Aplasia/Hypoplasia of the nasal bone

Absence or underdevelopment of the nasal bone.


Partial duplication of the distal phalanx of the 3rd finger

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


Uterine adenofibroma

A rare benign mullerian mixed tumor of the uterus composed of benign epithelial and mesenchymal components.


Elevated circulating S-adenosyl-L-homocysteine concentration

Increased concentration of S-adenosyl-L-homocysteine in the blood circulation.


Decreased forced expiratory flow 25-75%

A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled.


Agenesis of primary maxillary central incisor

Agenesis of upper central primary incisor.


Abnormal renal physiology

An abnormal functionality of the kidney.


Abnormal thyroid morphology

A structural abnormality of the thyroid gland.


Osteolytic defects of the distal phalanges of the hand


Diffuse telangiectasia

Telangiectases (small dilated blood vessels) with a diffuse localization.


Abnormal fifth toe morphology

An anomaly of the little toe.


Glomerular extracapillary fibrin

Presence of ropey, eosinophilic material (brght red on Trichrome staining) consistent with extracapillary fibrin outside of capillary lumina.


Duodenal aganglionosis

A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the duodenum.


epidermal appendage tumor

A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands.


Cochlear degeneration

Deterioration or loss of the tissues of the cochlea.


Abnormal circulating alpha-fetoprotein concentration

Concentration of alpha-fetoprotein in the blood circulation outside normal limits.


Abnormality of the glenoid fossa

An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.


Broad metacarpal epiphyses

Increased side-to-side width of the metacarpal epiphyses.


Curved linear dimple below the lower lip


Abnormality of the distal phalanx of the 5th finger

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


Abnormal forearm morphology

An abnormality of the lower arm.


Decreased CSF biopterin level

Concentration of biopterin in the cerebrospinal fluid (CSF) below the lower limit of normal.


Increased esterified to free carnitine ratio

An elevated ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.


Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole

A type of focal autonomic seizure characterized by changes in heart rate as the initial semiological feature.


Fractured distal phalanx of manus

A partial or complete breakage of the distal phalanx of manus.


Increased urine proteinogenic amino acid derivative level

An elevated urine level of a compound that is derived from an amino acid.


Benign neoplasm of the central nervous system

A non-metastasizing neoplasm that arises from the central nervous system.


Focal sensory seizure with gustatory features

A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes as its first clinical manifestation.


Bipedal edema

A palpable swelling in both feet and ankles caused by an increase in interstitial fluid volume (excess fluid).


Contracture of the distal interphalangeal joint of the 3rd toe

The distal interphalangeal joint of the 3rd toe cannot be straightened actively or passively.


Hypoplastic fingernail

Underdevelopment of a fingernail.


tympanosclerosis

The formation of dense connective tissue in the tympanic membrane that does not necessarily cause or lead to loss of hearing.


Squared iliac bones

A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance.


Visceromegaly

Abnormal increased size of the viscera of the abdomen.


Abnormal circulating non-proteinogenic amino acid concentration

Any deviation from the normal concentration in the blood circulation of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.


Fractured distal epiphysis of radius

A partial or complete breakage of the distal epiphysis of radius.


Abnormality of nail color

An anomaly of the color of the nail.


Abnormal bronchial artery morphology

Any structural abnormality of a bronchial artery.


Elevated circulating apolipoprotein B concentration

Increased circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100.


Abnormality of the calf

An abnormality of the calf, i.e. of the posterior part of the lower leg.


Episodic upper airway obstruction

Intermittent episodes of increased resistance to the passage of air in the upper airway.


Patchy sclerosis of the proximal phalanx of the 3rd finger

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


Abnormality of the vestibulocochlear nerve

Any structural anomaly of the vestibulocochlear nerve. The vestibulocochlear nerve consists of the vestibular and cochlear nerves, also known as cranial nerve eight (CN VIII). Each nerve has distinct nuclei within the brainstem. The vestibular nerve is primarily responsible for maintaining body balance and eye movements, while the cochlear nerve is responsible for hearing.


Patchy sclerosis of the middle phalanx of the 5th finger

Patchy increase in bone density of the middle phalanx of the 5th finger.


tarsal coalition

Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).


Abnormal humeral diaphysis morphology

An anomaly of the humeral diaphysis.


Clicking tinnitus

A type of tinnitus that presents as clicks, resembling the noise made by the snapping together of 2 fingers.


Abnormal erythrocyte metabolite concentration

A deviation from the normal range of a metabolite in red blood cells.


Urethral diverticulum

The presence of a diverticulum (sac or pouch) in the wall of the urethra.


Sclerosis of proximal toe phalanx

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


Fetal cerebellar hemisphere hemorrhage

A type of fetal intracranial hemorrhage that occurs in the hemisphere of the cerebellum.


Abnormal umbilical artery doppler waveform during pregnancy

Abnormal waveforms the Doppler sonographic examination of bloodflow in the umbilical artery. vUmbilical arterial Doppler assessment is used in surveillance of fetal health in the third trimester.


ainhum

Spontaneous autoamputation of a digit, usually the fifth toe. It results from the formation of a fibrotic band which constricts the full radius of the digit and eventually causes the spontaneous autoamputation.


Neonatal unilateral epileptic spasm

Neonatal unilateral epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs at one side of the body.


Chronic intestinal candidiasis

Persistent overgrowth of Candida albicans in the gastrointestinal tract.


Abnormal circulating short-chain fatty-acid concentration

Any deviation from the normal concentration of a short-chain fatty acid in the blood circulation.


Adrenocorticotropic hormone excess

Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex.


severe combined immunodeficiency

Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells.


Abnormal serum insulin-like growth factor 1 level

An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation.


Isometric tremor

An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist).


Interlobular vein medial atrophy

Atrophy (wasting, decreased thickness) of the medial layer pf the interlobular veins of the kidney.


Abnormal glomerular capillary morphology

A structural anomaly of the capillary blood vessels in the renal glomerulus.


High-output congestive heart failure

A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others.


Lumbar kyphosis

Over curvature of the lumbar region.


Axillary and groin hyperpigmentation and hypopigmentation


Asymmetry of the nares

Asymmetry or size difference between the left and right nostril.


Renal interstitial xanthogranulomatous inflammation

Inflammation of interstitial tissues of the kidney consisting of foamy macrophages admixed with plasma cells, lymphocytes and neutrophils and occasional giant cells.


subcortical band heterotopia

A developmental brain abnormality characterized by atypical migration of neurons during cortical development.


Partial beta-EEG

EEG dominated by diffuse beta waves (>13 Hz) with occipitally localized alpha waves (8-13 Hz).


EEG with centrotemporal focal spike waves

EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.


Abnormal caudate nucleus morphology

Any structural abnormality of the caudate nucleus.


Non-midline cleft lip

Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region.


Ridged fingernail

Longitudinal, linear prominences in the fingernail plate.


Hypoplasia of the ovary

Developmental hypoplasia of the ovary.


Rhizomelia

Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).


Lhermitte-Duclos disease

Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.


Increased urinary cortisol level

Abnormally increased concentration of cortisol in the urine.


Overfriendliness

A form of hypersociability that presents as mostly inappropriate people-orientation and friendliness towards others on an inadequate level which might go as far as being dangerous considering for example young children following strangers without restriction.


Short distal phalanx of toe

Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe.


Abnormal factor VIII activity

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


Progressive pulmonary function impairment


mesocardia

Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane.


leukodystrophy

Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems.


Fractured proximal phalanx of manus

A partial or complete breakage of the proximal phalanx of manus.


Reduced hemoglobin A

Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia.


Decreased circulating corticosterone level

An abnormally reduced concentration of corticosterone in the blood.


Increased circulating IgG1 level

An abnormally increased concentration of the IgG1 subtype in the blood circulation.


Abnormal circulating ornithine concentration

Deviation from the normal concentration of ornithine in the blood circulation.


Abnormality of skin adnexa morphology

An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.


Procedural memory loss

A reduction in the ability to retrieve information about how to perform activities, such as how to ride a bike or drive a car, how to perform activities of daily living, or how to play a musical instrument.


Reduced epidermal plectin protein expression


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


Posterior pituitary dysgenesis

Abnormal development of the neurohypophysis during embryonic growth and development.


Salmonella osteomyelitis

Osteomyelitis caused by infection with the bacteria, salmonella.


Arcuate artery endotheliosis

Enlargement of endothelial cells of the arcuate arteries of the kidney because of cytoplasmic swelling.


Elevated circulating propionylcarnitine concentration

Increased concentration of propionylcarnitine in the blood circulation.


Circumoral cyanosis

Persistent blue color of the skin that surrounds the mouth.


Proximal scleroderma

Symmetrical thickening, tightening and induration of the skin of the fingers and the skin proximal to the metacarpophalangeal or metatarsophalangeal joints. These changes can involve the entire limb, face, neck and trunk.


Duplication of the middle phalanx of the 2nd finger

Partial or complete duplication of the middle phalanx of index finger.


Contracture of the interphalangeal joint of the hallux

The interphalangeal joint of the big toe cannot be straightened actively or passively.


Left ventricular systolic dysfunction

Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent.


Decrease in high molecular weight von Willebrand factor Multimers

A decrease in high molecular weight von Willebrand factor multimers.


Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine

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


Ballooning hepatocyte degeneration

Swelling of the hepatocyte, rounding of its contour, and alteration of the cytoplasm, which takes on a reticulated, rarified, or flocculant quality. The cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding protein P62.


Abnormal macrophage count

An anomaly in the number of macrophages.


Elevated proportion of CD4+ effector memory T cells

An abnormally increased proportion of effector memory CD4+ T cells. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype.


Fractured distal tarsal bone

A partial or complete breakage of the distal tarsal bone.


Decreased cirrculating antimullerian hormone circulation

A reduction below the normal range of the antimullerian hormone in the circulation.


Abnormality of the mitochondrion

An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration.


Reticulocytosis

An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.


Abnormal blistering of the skin

The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.


Decreased CSF tyrosine concentration

Abnormally decreased levels of tyrosine in cerebrospinal fluid.


Focal cortical dysplasia type Ib

A subtype of focal cortical dysplasia type I that is characterized by abnormal tangential cortical lamination.


Intermittent generalized erythematous papular rash


1-2 finger syndactyly

Syndactyly with fusion of fingers one and two.


Easily subluxated first metacarpophalangeal joints


Absent epiphysis of the middle phalanx of the 3rd toe


Focal aware autonomic seizure with piloerection

A focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by retained awareness throughout the seizure.


Triangular epiphysis of the middle phalanx of the 5th toe


osteoarthritis, knee

Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019)


Supernumerary testes

The presence of more than two testes.


medulloepithelioma

A rare, usually aggressive malignant embryonal neoplasm of the central nervous system occurring in children. It is characterized by the presence of neuroepithelial cells which form papillary, trabecular, or tubular structures and absence of C19MC amplification. Symptoms include headache, nausea, and vomiting.


Decreased proportion of CD4-positive T cells

A reduction in the proportion of CD4-positive T cells relative to the total number of T cells.


Anti-La/SS-B antibody positivity

The presence of autoantibodies in the blood circulation that react against La/SSB autoantigens.


Fatty replacement of ventricular myocardial tissue

Presence of an increased amount of fat tissue within a cardiac ventricle with corresponding reduction of muscle tissue.


Fractured upper limb segment

A partial or complete breakage of the upper limb segment.


Aplasia of the distal phalanx of the 5th finger

Absence of the distal phalanx of the little (5th) finger.


Abnormal morphology of myocardial trabeculae

Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae).


Small epiphysis of the middle phalanx of the 4th toe


Cuboidal metacarpal

Severely shortened metacarpal with a cuboidal appearance.


Decreased HDL2a concentration

A reduction below the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2a particle is defined as an HDL particle with a size of 8.80-9.69 nm.


Pseudoepiphysis of the middle phalanx of the 5th finger

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


Abnormal Sharpey fiber morphology

An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone.


Interictal EEG abnormality

Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge.


Elevated cholesterol ester level

An elevated concentration of circulating cholesterol esters, which are fatty acid esters of cholesterol and make up about two-thirds of total plasma cholesterol.


Monoclonal elevation of circulating IgA

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


Anti-GW182 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GW182.


Abnormal proportion of effector memory CD8-positive, alpha-beta T cells

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


Serrated incisors

Incisor teeth with irregular edges said to resemble a saw.


Focal impaired awareness autonomic seizure with erection

A focal autonomic seizure with erection characterized by impairment of awareness at some point during the seizure.


Vestibular saccular degeneration

Deterioration or loss of the tissues of the saccule of the vestibule.


Abnormal glomerular endothelial cell morphology

An abnormal structure of the glomerular endothelial cells, which are highly specialized cells with fenestrae and a charged luminal glycocalyx layer that contribute to the filtration barrier.


Thyroid agenesis

The congenital absence of the thyroid gland.


Focal aware cognitive seizure with receptive dysphasia/aphasia

A focal cognitive seizure with receptive dysphasia / aphasia characterized by retained awareness throughout the seizure.


Onychauxis

Thickened nails without deformity.


Short tibia

Underdevelopment (reduced size) of the tibia.


Axial hypotonia

Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.


White cerebellum sign

On computed tomography of the brain,the white (or dense) cerebellum sign is seen when the cerebellum appears dense with respect to the cerebral parenchyma. The increase in attenuation of cerebellum is in fact a relative hyperdensity caused by decreased attenutation of the brain. It represents anoxic-ischemic cerebral injury, and has a very poor prognosis.


Low alkaline phosphatase of renal origin

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


Upper limb postural tremor

A type of tremors that is triggered by holding an arm in a fixed position.


Decreased circulating A-type natriuretic peptide concentration

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


Neoplasm of striated muscle

A benign or malignant neoplasm (tumor) originating in striated muscle, either skeletal muscle or cardiac muscle.


Oral melanotic macule

Flat, distinct, discolored area of oral mucosal membrane less than 1 cm wide not associated with a change in the thickness or texture of the affected mucosal membrane. The lesions are small, solitary, well-circumscribed and often uniformly pigmented.


Myocardial granulomatous infiltrates

The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the myocardium.


Increased level of D-threitol in plasma

An increase in the level of D-threitol in the plasma.


Progressive forearm bowing

Progressive bending or abnormal curvature of the forearm skeleton.


Abnormal sternum morphology

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


Bracket epiphyses of the 3rd finger

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


cerebral cavernous malformation 1

A cerebral cavernous malformation (also known as cavernoma, cavernous angioma, cavernous hemangioma) is a collection of structurally abnormal slow-flow capillaries predominantly in the central nervous system. These are multiple mulberry-like distended caverns of dilated thin-walled capillaries without the normal intervening brain parenchymal architecture. Often, individual cavernomas are surrounded by hemosiderin representing remote oozing due to the abnormal capillaries.


Localized periodontitis

A localized form of periodontitis.


Absent distal phalanx of the 3rd toe

Developmental aplasia of the distal phalanx of third toe.


Focal cognitive seizure with forced thinking

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


Abnormal basophil morphology

Any structural abnormality or abnormal count of basophils.


Lymphocytic infiltration of the colorectal mucosa

Abnormally increased intraepithelial lymphocyte count. This finding may be appreciated as large numbers of surface intraepithelial lymphocytes as seen (for instance) with hematoxylin and eosin staining of a colonic biopsy sample taken during colonoscopy.


Decreased platelet alpha-2A-adrenergic receptor

Decreased cell membrane concentration of alpha-2A adrenergic receptor that is stimulated by epinephrine.


Short hard palate

Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective).


Median pseudocleft lip

A type of mild median cleft lip in which the central tubercle of the upper lip is replaced by a mucosal cleft in the midline.


Neonatal bilateral symmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body symmetrically.


Hypoplastic labia majora

Undergrowth of the outer labia.


Cerebral cortical microinfarct

An infarct located on the outer layer of the cerebrum that can only be observed microscopically. Cerebral microinfarcts are typically defined as sharply delimited microscopic regions of cellular death or tissue necrosis, sometimes with cavitation (that is, a central fluid-filled cavity). The term microscopic denotes that these lesions are not visible by gross inspection of the brain but seen by light microscopy. The term infarct is most commonly used for ischemia-related tissue loss, and indeed the pathologic appearance of microinfarcts is consistent with that of known ischemic infarctions.


Bracket epiphysis of the middle phalanx of the 5th finger

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


Elongated radius

Increased length of the radius.


Focal substantia nigra T2 hyperintensity

Hyperintense lesion in the substantia nigra on magnetic resonance T2 imaging.


thyroid hemiagenesis

Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.


Uhl anomaly

Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation.


Acetabular erosions

Erosion (loss of substance) of the acetabular subchondral cortical bone. The acetabulum is the concave surface that meets with the head of the femur, forming the hip joint.


Abnormal lymphocyte physiology

Any anomaly of lymphocyte function.


Reduced prothrombin antigen

Reduced prothrombin antigen as measured by ELISA assay. Prothrombin is a vitamin K-dependent coagulation factor that is proteolytically cleaved to form thrombin.


central nervous system malformation

An abnormality of the nervous system.


Infancy onset short-trunk short stature

A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy.


Triangular epiphyses of the proximal phalanges of the hand


Recurrent paroxysmal headache

Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality.


Focal aware bilateral motor seizure

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


Small epiphyses of the 2nd finger

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


Abnormal glossopharyngeal nerve morphology

Any structural anomaly of the glossopharyngeal nerve, the ninth paired cranial nerve (CN IX).


Esophageal web

Thin (2-3mm) membranes of normal esophageal tissue consisting of mucosa and submucosa that can be congenital or acquired. Congenital webs commonly appear in the middle and inferior third of the esophagus, and they are more likely to be circumferential with a central or eccentric orifice. Acquired webs are much more common than congenital webs and typically appear in the cervical area (postcricoid). Clinical symptoms of this condition are selective (solid more than liquids) dysphagia, thoracic pain, nasopharyngeal reflux, aspiration, perforation and food impaction (the last two are very rare).


Wide nose

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


Abnormal arcuate artery lumen morphology

Abnormal structural characteristics of the interior space (lumen) of the arcuate artery of the kidney.


Triangular epiphysis of the middle phalanx of the 3rd toe


Athetosis

A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest.


Abnormal pulmonary lymphatics

An abnormality of the pulmonary lymphatic chain.


Proximal finger joint hyperextensibility


Abnormality of molar

An abnormality of molar tooth.


Fibular overgrowth

Relatively increased growth of the fibula compared to that of the tibia.


Periauricular skin pits

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


Verrucous cell carcinoma of the tongue

A low-grade variant of squamous cell carcinoma of the tongue with a warty (verrucous) appearance.


Facial wrinkling

Excessive wrinkling of the skin of the face.


Plantar flexion contracture

A type of contracture in which the plantar flexion muscles are contracted.


Ivory epiphysis of the distal phalanx of the 4th toe


Atypical absence status epilepticus

Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure.


Muscular ventricular septal defect

The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle.


Iliac horns

Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic.


Abnormal uterine cervix morphology

An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix.


Abnormality of primary teeth

Any abnormality of the primary tooth.


Absent antihelix

No discernible ridge between concha and triangular fossa and helix.


Fast-growing nails

Nails whose growth is quicker than normal.


Abnormal cerebral vein morphology

An anomaly of cerebral veins.


Abnormal exteroceptive sensation

A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes.


Osteolytic defects of the middle phalanx of the 2nd toe


Abnormality of venous physiology

An anomaly of venous function.


Abnormal circulating insulin concentration

An abnormal concentration of insulin in the body.


Abnormal spermatogenesis

Incomplete maturation or aberrant formation of the male gametes.


Positional foot deformity

A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies.


Renal arteriole intima/media hyalinosis

Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material (hyalinosis) in the inner or middle layer of the renal arterioles. This feature may be accompanied by hypertrophy of the media and intima fibrosis.


deep seated dermatophytosis

A deep folliculitis due to a cutaneous dermatophyte infection, usually on the legs. It is most commonly caused by trichophyton rubrum and is characterized by the formation of spongy granulomas which persist for three to four months and leaves deep scars.


Wide distal femoral metaphysis

Increased width of the distal part of the shaft (metaphysis) of the femur.


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

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


Focal aware emotional seizure with fear/anxiety/panic

Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is retained throughout.


Renal arteriole foam cell endoarterial hypercellularity

A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen.


Abnormal monocyte morphology

Any structural anomaly of a myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.


Decreased sensitivity to hypoxemia

Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration.


Abnormal number of incisors

The presence of an altered number of the incisor teeth.


Aplasia/hypoplasia of the humerus

Absence (due to failure to form) or underdevelopment of the humerus.


Hot cross bun sign

A cruciform-shaped hyperintensity within the pons found on T2-weighted magnetic resonance imaging (MRI).


Abnormality of the epiphysis of the distal phalanx of the hallux


Brittle hair

Fragile, easily breakable hair, i.e., with reduced tensile strength.


Aplasia/hypoplasia of proximal toe phalanx

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


neurofibrosarcoma

A malignant tumor that arises from small cutaneous nerves, is locally aggressive, and has a potential for metastasis. Characteristic histopathologic features include proliferating atypical spindle cells with slender wavy and pointed nuclei, hypocellular areas, and areas featuring organized whorls of fibroblastic proliferation. The most common primary sites are the extremities, retroperitoneum, and trunk. These tumors tend to present in childhood, often in association with neurofibromatosis 1. (From DeVita et al., Cancer: Principles & Practice of Oncology, 5th ed, p1662; Mayo Clin Proc 1990 Feb;65(2):164-72)


Diminished ability to concentrate

Being unable to focus one's attention or mental effort on a particular object or activity.


Increased level of myristic acid in serum

An increase in the level of myristic acid in the serum.


Cervical kyphosis

Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance.


Focal aware head nodding automatism seizure

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


Aplastic/hypoplastic toenail

Absence or underdevelopment of the toenail.


Confluent hyperintensity of cerebral white matter on MRI

Areas of brighter than expected MRI signal in the white matter of the brain whereby individual patches run together.


Excessive salivation

Excessive production of saliva.


Posteriorly rotated ears

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


Hepatic foam cells

The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the liver.


Bracket epiphysis of the proximal phalanx of the thumb

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


Abnormality of the distal phalanges of the toes


Cerebellar granular layer atrophy

Atrophy of the cerebellum affecting primarily the granular cell layer.


Absent proximal phalanx of the 3rd toe

Absence of proximal phalanx of third toe, owing to a congenital defect of development.


Focal impaired awareness autonomic seizure with piloerection

A Focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by impaired awareness at some point during the seizure.


Fingerpad telangiectases

Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers.


Short chin

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


Pulmonary xanthomatosis

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


Anomalous origin of right coronary artery from the pulmonary artery

Right coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the right cusp of the aortic valve.


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


Acromicria

Small hands and feet in proportion to the rest of the body.


Agenesis of permanent mandibular central incisor

Agenesis of lower secondary incisor.


Weak grip

Reduced grip strength. Gripping is the motion by which the hand tightly grasps an object or other hand.


Flared iliac wing

Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing.


corpus callosum, agenesis of

A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment.


Flat distal femoral epiphysis

An abnormal flattening of the distal epiphysis of femur.


Enlarged peripheral nerve

Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve.


Proximal lower limb amyotrophy

Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh.


Expressive language delay

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


Honeycomb lung

Honeycombing represents destroyed and fibrotic lung tissue containing numerous cystic airspaces with thick fibrous walls, representing the late stage of various lung diseases, with complete loss of acinar architecture. The cysts range in size from a few millimeters to several centimeters in diameter, have variable wall thickness, and are lined by metaplastic bronchiolar epithelium. On chest radiographs, honeycombing appears as closely approximated ring shadows, typically 3-10 mm in diameter with walls 1-3 mm in thickness, that resemble a honeycomb; the finding implies end-stage lung disease. On CT scans, the appearance is of clustered cystic air spaces, typically of comparable diameters on the order of 3-10 mm but occasionally as large as 2.5 cm. Honeycombing is usually subpleural and is characterized by well-defined walls. It is a CT feature of established pulmonary fibrosis. Because honeycombing is often considered specific for pulmonary fibrosis and is an important criterion in the diagnosis of usual interstitial pneumonia, the term should be used with care, as it may directly impact patient care.


Hypoplasia of right ventricle

Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells.


Intellectual disability, severe

Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.


neurofibroma

An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors.


flatfoot

An anatomic deformity in which the arch of the foot collapses, resulting in the entire sole of the foot coming into complete or near-complete contact with the ground.


holoprosencephaly 1

The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22.


Hypoleucinemia

Decreased amount of leucine in the blood.


Increased intestinal transit time

An increase in the length of time required for food to pass through the intestines.


Symphalangism affecting the phalanges of the 3rd toe


xanthogranuloma

A reactive lesion characterized by the presence of a bland histiocytic cellular infiltrate admixed with giant cells.


Absent metatarsal bone

A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone.


Increased aromatic amino acid level in urine

An elevated level of an aromatic amino acid in the urine.


tricuspid valve prolapse

Abnormal protrusion of one or more of the leaflets of tricuspid valve into the right atrium during systole. This allows the backflow of blood into right atrium leading to tricuspid valve insufficiency; systolic murmurs. Its most common cause is not primary valve abnormality but rather the dilation of the right ventricle and the tricuspid annulus.


Decreased circulating 17-hydroxyprogesterone concentration

Concentration of 17-hydroxyprogesterone in the blood circulation below the lower limit of normal.


Cor triatrium sinister

A developmental anomaly of the heart characterized by the presence of three atria because the left atrium is divided by an abnormal septum.


Mental deterioration

Loss of previously present mental abilities, generally in adults.


Partial hyposmia

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


Osteolytic defects of the phalanges of the 2nd finger


Olfactory sensory seeking

Pursuit of specific scents, smells, or fragrances that is abnormal in intensity and/or frequency.


Diffuse cerebral atrophy

Diffuse unlocalised atrophy affecting the cerebrum.


Abnormal facial artery morphology

Any structural abnormality of a facial artery, one of the branches of the external carotid artery.


Arteriovenous malformation of the lip

A vascular malformation located in the lip that is characterized by direct blood shunting from an artery to a vein due to the absence of a capillary bed. The artery and vein can be directly connected by a fistula or indirectly connected by an abnormal vessel channel termed a nidus.


Renal tubular epithelial lipofuscin

Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules.


isolated Pierre-Robin syndrome

Pierre-Robin syndrome (or Pierre-Robin sequence) is characterised by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft.


Impaired temperature sensation

A reduced ability to discriminate between different temperatures.


Broad finger

Increased width of a non-thumb digit of the hand.


Bullet-shaped distal phalanx of the thumb

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


Abnormality of the epiphyses of the distal phalanx of finger

Any anomaly of distal epiphysis of phalanx of finger.


Dystrophic fingernails

The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate.


Enlarged epiphysis of the distal phalanx of the 3rd finger

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


Abnormal duodenum morphology

An abnormality of the duodenum, i.e., the first section of the small intestine.


Elevated transferrin saturation

An above normal level of saturation of serum transferrin with iron.


Abnormal pleura morphology

An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls.


Anti-H2A antibody positivity

The presence of autoantibodies in the blood circulation that react against histone H2A.


Reduced left ventricular endsystolic diameter

A lower than normal left ventricular endsystolic diameter.


Partial albinism

Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs.


5-oxoprolinase deficiency

5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria.


Frontal cutaneous lipoma

Presence of a cutaneous lipoma on the forehead.


Hypovalinemia

A decreased amount of valine in the blood.


Left unilambdoid synostosis

Premature synostosis of only the left lambdoid suture.


Rhizomelic arm shortening

Disproportionate shortening of the proximal segment of the arm (i.e. the humerus).


Fatiguable weakness of proximal limb muscles

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


Impaired fasting glucose

Impaired fasting glucose (IFG) is indicated by a fasting plasma glucose above normal but below the diabetic range. Levels between 110 mg/dl (6.1 mmol/l) to 125 mg/dl (6.9 mmol/l) are diagnostic of IFG.


Abnormal left ventricular endsystolic diameter

A deviation from the normal range of the left ventricular endsystolic diameter.


abdominal aortic aneurysm

Enlargement and ballooning of the vessel that supplies arterial blood to the abdomen, pelvis and legs.


Anti-laminin gamma1 antibody positivity

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


Early progressive calcific cardiac valvular disease


Embryonal renal neoplasm

The presence of an embryonal neoplasm of the kidney that primarily affects children.


Irregular epiphysis of the 1st metatarsal


Posterior pituitary agenesis

Absence of the neurohypophysis owing to a developmental defect.


Asymmetry of the mandible

Lack of symmetry between the left and right mandible.


Hypoplastic tricuspid valve

Congenital defect characterized by underdevelopment of the tricuspid valve.


Agenesis of molar

Agenesis of molar tooth.


Synostosis of the proximal phalanx of the hallux with the 1st metatarsal


Shoulder muscle aplasia

Absence of shoulder muscles.


holoprosencephaly

Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity.


Polyclonal elevation of circulating IgA

A heterogeneous increase in IgA mmunoglobulins characterized by a diffuse band on serum electrophoresis.


Broad humeral epiphyses

Increased width of the humeral epiphysis.


Preterm intraventricular hemorrhage

Intraventricular hemorrhage that occurs in a premature infant.


Abnormal pancreas size

A deviation from the normal size of the pancreas.


Cryptotia

Invagination of the superior part of the auricle under a fold of temporal skin.


Aplasia/Hypoplasia of the thyroid gland

Absence or underdevelopment of the thyroid gland.


Atrophic pituitary gland

Partial or complete wasting (loss) of the pituitary gland.


Renal interstitial calcium oxalate

The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney.


Abnormal toenail morphology

An anomaly of the toenail.


Music-induced seizure

Seizure precipitated by listening to music or other complex sounds.


Appendicular hypotonia

Muscular hypotonia of one or more limbs.


Radial metaphyseal irregularity

Irregularity of the normally smooth surface of the metaphysis of the radius.


Hypoplastic scapulae

Underdeveloped scapula.


Anti-phosphatidic acid antibody positivity

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


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


Early inspiratory crackles

Crackles that appear at the beginning of inspiration and end before mid-inspiration.


hereditary geniospasm

Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip.


postaxial polydactyly type A

Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal.


Soft-tissue ossification around the shoulders

Formation of calcified tissue in the soft tissues surrounding the shoulder.


Type 2 schizencephaly

A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal grey matter that are opposed to each other.


Hepatic melanin-like lysosomal pigmentation

Accumulation of dark, coarsely granular pigment localized in lysosomes of centrilobular hepatocytes.


Dibasicaminoaciduria

An increased level of a dibasic amino acid in the urine. Dibasic amino acids are usually refered to simply as basic aminoacids because they contain basic side chains at neutral pH. These are arginine (Arg), lysine (Lys), and histidine (His).


Anti-p53 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against p53.


Anomalous origin of the right common carotid artery from the aorta

The right common carotid artery normally originates from the brachiocephalic artery. This term refers to an origin of this artery directly from the aorta.


Eosinophilic gallbladder infiltration

Cellular infiltrate confirmed by a cellular infiltrate comprised of mainly eosinophils in the gallbladder wall on histological examination.


Stippling of the epiphysis of the proximal phalanx of the 2nd toe

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


Scheuermann disease

A disorder characterized by osteochondrosis of the vertebral epiphyses in childhood.


Tactile sensory seeking

Pursuit of a specific texture that is abnormal in intensity and/or frequency.


Focal cortical dysplasia type Ia

A subtype of focal cortical dysplasia type I that is characterized by abnormal radial cortical lamination.


Dilatation of celiac artery

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


Sleep myoclonus

Myoclonus that occurs during the initial phases of sleep.


Broad 2nd toe

A broad appearance of the second toe.


Premature pubarche

The onset of growth of pubic hair at an earlier age than normal.


Anti-HLA-A IgG3 antibody positivity

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


Small trapezoid bone

Underdevelopment of the trapezoid.


Abnormality of blood circulation

An abnormality of blood circulation.


Sclerosis of the distal phalanx of the 4th finger


Patchy sclerosis of distal toe phalanx

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


Abnormal subcutaneous fat tissue distribution


Hypoplastic left atrium

Underdeveloped, small left heart atrium


Pallidal degeneration

Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement.


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


migraine without aura

A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms.


Multiple muscular ventricular septal defects

A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum.


Fragile teeth

A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma.


Hypoplasia of the frontal bone

Underdevelopment of the frontal bone.


Hyperechogenic kidneys

An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal.


Irregular epiphysis of the distal phalanx of the 5th finger

Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger.


Screwdriver-shaped incisors

An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape.


cholesteatoma

A pathologic process characterized by the proliferation of keratinizing squamous epithelium resulting in the accumulation of keratin and cells in the middle ear and/or mastoid. It may be congenital or acquired. If left untreated, it may increase in size and destroy adjacent structures.


Decreased CSF leucine concentration

Abnormally decreased levels of leucine in the cerebrospinal fluid.


autoimmune hypoparathyroidism

An autoimmune form of hypoparathyroidism.


Absent hallux epiphysis

Failure to form (agenesis) of one or more epiphyses of the big toe.


Oligoclonal elevation of circulating IgG

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


Elevated CSF chitinase-3-like protein 1 concentration

Increased concentration of chitinase-3-like protein 1 in cerebrospinal fluid.


Lip tremor

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


Hippocampal malrotation

Hippocampal malrotation, also termed incomplete inversion of the hippocampus or hippocampal malformation, is an increasingly recognized neuroimaging finding of undetermined clinical significance. It is characterized by features including (i) Round or pyramidal shape instead of ovoid shape; (ii) Medial position of the hippocampus on the hippocampal sulcus; (iii) The collateral sulcus is excessively deep or verticalized; (iv) Fimbria located medial to the hippocampus; (v) Small or displaced fornix; (vi) Enlarged temporal horn and empty choroid fissure; (vii) Thickened subiculum; (viii) Reduced upper horizontal portion of the parahippocampal gyrus.


Duplication of renal pelvis

A duplication of the renal pelvis.


pulmonary artery agenesis

A congenital defect with aplasia (absence) of one of the right or left pulmonary artery.


Urinary space collagenization

Acellular collagenous matrix within Bowman's space, not associated with extracapillary hypercellularity or necrosis, associated with sclerosis or deflation of the tuft.


inherited glutathione synthetase deficiency

Glutathione synthetase deficiency is characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.


Forearm supination contracture

A contracture that limits the ability of the forearm to stabilize the hand in pronation (pronation refers to a rotation of the forearm that causes the palm and forearm to face downwards), meaning that the palm is fixed in a upward orientation. Restriction of supination/pronation can occur at the elbow (radial-humeral joint), at the wrist (radial-ulnar joint), and anywhere in between.


Underfolded helix

Underdevelopment of the helix that either affects the entire helix, or is localized.


Normal interictal EEG

Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis.


Type 1 congenital pulmonary airway malformation

A type of congenital pulmonary airway malformation that is characterized by multiple large cysts or a single dominant cyst.


Nephrotic range proteinuria

Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children.


Abnormal cerumen color

An anomolous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color.


Oppenheim reflex

Dorsiflexion of the big toe, sometimes accompanied by fanning of the other toes, elicited by stroking along the medial side of the tibia (the normal response would be no movement of the big toe).


Abnormal septum pellucidum morphology

An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain.


Eruption failure

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


Enlarged epiphysis of the distal phalanx of the 2nd finger

Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms.


Lack of T cell function

Complete inability of T cells to perform their functions in cell-mediated immunity.


Binucleated visceral epithelial cells

Visceral epithelial cells with 2 nuclei. Can be observed on light or ultrastructral microscopy.


Monocytopenia

An decreased number of circulating monocytes.


Aplasia/Hypoplasia of the phalanges of the 5th toe


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

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


Reduced von Willebrand factor activity

Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.


External carotid artery dissection

A separation (dissection) of the layers of the external carotid artery wall.


Venom allergy

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


Abnormal circulating carnitine concentration

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


Abnormality of the philtrum

An abnormality of the philtrum.


Abnormality of inferior alveolar nerve

An abnormality of an inferior alveolar nerve.


Central nail canal

The presence of a depressed line ("canal") in the center of the nail.


Absent epiphysis of the distal phalanx of the 5th finger

Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger.


Rhomboid or triangular shaped 5th finger proximal phalanx

Rhomboid or triangular shaped 5th (little) finger proximal phalanx.


Small epiphysis of the proximal phalanx of the 4th finger

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


Proximal placement of hallux

Proximal mislocalization of the big toe from its normal position.


Abnormal circulating copper concentration

An abnormal concentration of copper.


Abnormal right ventricle morphology

An abnormality of the right ventricle of the heart.


atrial septal defect, coronary sinus type

A developmental defect in which the coronary sinus fails to form.


Elevated circulating uracil concentration

Concentration of uracil in the blood circulation is above the normal range.


Anti-ribosome Po antibody positivity

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


Absent radius

Missing radius bone associated with congenital failure of development.


Lateral displacement of the femoral head

A developmental anomaly with lateral displacement of the femoral head.


Focal T2 hyperintense thalamic lesion

A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus.


Anomalous coronary artery arising from the opposite sinus

Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva.


Overjet

An abnormal anteroposterior extension of the maxillary teeth beyond the plane of the mandibular teeth upon jaw closure.


Intestinal lymphedema

Fluid retention and edema in the intestine caused by a compromised lymphatic system.


Non-spinning vertigo

A perception of unsteadiness of dizziness that is not characterized bythe spinning sensation of classic vertigo, but rather by an oscillatory perception (rocking, bobbing, or swaying despite the fact that the subject is not moving).


Cleft ala nasi

The presence of a notch in the margin of the ala nasi.


CSF mycobacteria

Mycobacterium present in the cerebrospinal fluid (CSF). This feature can be ascertained by CSF microscopy.


Abnormal cerebral venous sinus morphology

Abnormal structure of the venous sinuses that drain blood from the cerebral veins and cerebrospinal fluid (CSF) from the arachnoid granulations to the internal jugular veins.


Subluxation of the small joints of the hand

A partial dislocation of some or all of the small joints of the hand.


Hypoplasia of proximal fibula

Underdevelopment or shortening of the end of the fibula (calf bone) nearest the knee.


Abnormality of the pylorus

An abnormality of the pylorus.


L-2-hydroxyglutaric aciduria

L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.


Irregular epiphyses of the metacarpals

Irregular radiographic opacity of the epiphyses of the metacarpals.


Focal neonatal sequential seizure

Focal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic focal signs, often changing lateralization within or between seizures.


Tessier number 6 facial cleft

A facial cleft extending from the zygomatic arch to the eye. This zygomaticomaxillary cleft is similar to that typically found in Treacher Collins syndrome. The overlying tissue shows a vertical sclerodermic furrow radiating from the labial commissure or the angle of the mandible across the cheek to a coloboma of the lower eyelid between the middle and lateral one-third. Microphthalmia is not observed. The skeletal cleft is between the maxilla and zygoma; it passes through the inferolateral orbital rim to enter the inferior orbital fissure. No alveolar cleft is present. The zygomatic arch is intact. The soft tissue furrow, which is more apparent on the right, radiates from the oral commissure toward the lateral two-thirds of the lower eyelid. The antimongoloid obliquity of the palpebral fissures is associated with laterally placed lower eyelid clefts and some ectropion. A left-sided anophthalmia is accompanied by adjacent soft tissue hypoplasia and is reflected in a short palpebral fissure, enophthalmos, and minor ptosis of the eyebrow. No abnormality is present in the alveolar arch except for some tilting of the occlusal plane secondary to hypoplasia of the left side of the maxilla. There is a vertical bony groove in the region of the zygomaticomaxillary suture that ends in the inferolateral portion of a small bony orbit. More laterally, the remainder of the zygomatic body and arch is normal in both shape and dimension. The lateral orbital floor is downslanting but intact, and it lacks direct communication with the temporal or infratemporal fossae. The hypoplasia of the left side of the maxilla and orbit is associated with a reduction in the transverse and anteroposterior dimensions of the anterior cranial fossa; mild asymmetry of the middle cranial fossa and calvarium is present. No significant asymmetry of size, shape, or position is present in the sphenoid.


EEG with abnormally slow frequencies

EEG with abnormally slow frequencies.


Severe intrauterine growth retardation

Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age.


Abnormal thoracic duct morphology

Any structural anomaly of the thoracic duct.


Abnormality of cardiovascular system electrophysiology

An anomaly of the electrical conduction physiology of the heart.


Compression-fractured vertebra

A fracture of the vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.


Low-set, posteriorly rotated ears

Ears that are low-set and posteriorly rotated.


Stippling of the epiphysis of the middle phalanx of the 2nd finger


Abnormality of the anterior commissure

An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts.


Abnormality of the distal phalanx of the 4th toe


Aplasia/Hypoplasia of the phalanges of the hand

Small or missing phalangeal bones of the fingers of the hand.


Increased circulating galectin-3 level

An increased circulation of galectin-3 in the blood circulation.


fibromuscular dysplasia

A disorder characterized by fibrous thickening of the arterial wall resulting in narrowing of the arterial lumen. It most often affects the renal artery and less often the carotid artery and abdominal arteries. It can cause hypertension and aneurysm formation.


bone neoplasm

A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage.


Absent epiphysis of the proximal phalanx of the 5th finger

Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger.


Facial hirsutism

Excess facial hair.


Focal aware cognitive seizure with dysgraphia/agraphia

A focal cognitive seizure with dysgraphia / agraphia characterized by retained awareness throughout the seizure.


Hyporeflexia of upper limbs

Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.


Absent mesencephalon

Agenesis of the midbrain.


Aortic arch aneurysm

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


Patchy sclerosis of the distal phalanx of the 5th finger

Patchy increase in bone density of the distal phalanx of the 5th finger.


Straddling atrioventricular valve

Anomalous insertion of the chordae tendinae or papillary muscles into the contralateral ventricle in the presence of a ventricular septum defect.


familial dysfibrinogenemia

Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen.


Radial head subluxation

Partial dislocation of the head of the radius.


Tetralogy of Fallot with absent subarterial conus


Curved middle phalanx of the 5th finger

Curved appearance of the middle phalanx of the 5th finger.


Hyperhomocystinemia

An increased concentration of homocystine in the blood.


Solitary angiokeratoma

A dark, keratotic papule about 2-10 mm in diameter, usually occuring on the lower extremeities. Usually the lesions begin as bright, soft, and nonkeratotic paules which grow larger and change to a firm, blue to black and keratotic stage.


Abnormal morphology of the proximal phalanx of the 5th toe


osteoma

A benign, well-circumscribed, bone-forming neoplasm predominantly composed of lamellar bone. It usually arises from the calvarial, facial, or jaw bones. It is usually asymptomatic but it may cause local swelling or obstruction of the paranasal sinuses. Asymptomatic cases have an indolent clinical course.


Posterior predominant subcortical band heterotopia

Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the occipital cortex.


Recurrent infections of the middle ear

Increased susceptibility to middle ear infections, as manifested by recurrent episodes of middle ear infections


hyperkeratosis lenticularis perstans

Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a keratinization abnormality characterized by small, asymptomatic erythematous papules that leave characteristic punctate bleeding when they become detached. The lesions generally occur symmetrically along the top of the foot and on the legs, appearing more rarely on the arms, forearms, palms, and soles, and even on the oral mucosa.


CSF infectious agent

The presence of an infectious agent in the cerebrospinal fluid (CSF).


Patent ductus arteriosus after premature birth

Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation.


Diffuse hepatic steatosis

A diffuse form of hepatic steatosis.


Hypothalamic gliosis

Focal proliferation of glial cells in the hypothalamus.


Stippling of the epiphysis of the proximal phalanx of the thumb

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


Molar tooth sign on MRI

An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth.


Decreased proportion of unswitched memory B cells

A reduction below the normal proportion of non-class-switched memory B cells relative to the total number of B cells.


Renal tubular basement membrane denudation

Naked basement membranes without tubular epithelium.


Sclerosis of 4th toe phalanx

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


Abnormal facial shape

An abnormal morphology (form) of the face or its components.


monostotic fibrous dysplasia

Fibrous dysplasia of bone involving only one bone.


Short middle phalanx of the 4th finger

Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger.


Abnormality of the epiphysis of the distal phalanx of the 4th finger


Malformation of the hepatic ductal plate


Posterior communicating artery aneurysm

A widening (ballooning) localized in the wall of the posterior communicating artery.


Fractured epiphysis of first metatarsal bone

A partial or complete breakage of the epiphysis of first metatarsal bone.


nonsyndromic congenital nail disorder 4

Any isolated congenital anonychia in which the cause of the disease is a mutation in the RSPO4 gene.


Focal non-motor seizure

A type of focal-onset seizure characterized by non-motor signs or symptoms (or behaviour arrest) as its initial semiological manifestation.


Partial duplication of the proximal phalanx of the 5th toe

Partial duplication of the proximal phalanx of fifth toe.


Abnormal skeletal muscle morphology

A structural abnormality of a skeletal muscle.


mastoiditis

Inflammation of the mucosal lining of the mastoid antrum and mastoid air cell system of the mastoid process.


non-immune hydrops fetalis

Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders.


Abnormal circulating androgen level

An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.


Hirano bodies

Intracellular aggregates of actin and actin-associated proteins within nerve cells.


Intratesticular abscess

A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins.


Increased B cell count

An abnormal increase from the normal count of B cells.


Abnormal respiratory system morphology

A structural anomaly of the respiratory system.


Misalignment of incisors

Misaligned incisor.


Aortic laminar medial collapse

Architecturally, a compaction of aortic medial elastic fibers that creates thinning of the lamellar unit secondary to a band-like smooth muscle cell loss identified using a stain for elastic fibers.


progressive myoclonus epilepsy

A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system.


Focal aware cognitive seizure with memory impairment

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


Tracheal tug on inspiration

Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree.


Membranous choanal atresia

Absence of the normal opening of the choana (the posterior nasal aperture) as a result of an obstructing choanal membrane that may be thin and strandlike or thick and pluglike.


Patchy sclerosis of finger phalanx

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


xanthinuria

A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine.


Prolonged Russell's viper venom time

Increased time to coagulation in the Russell's viper venom assay


Abnormal arm span

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


Gastric neurofibroma

A neurofibroma (benign peripheral nerve sheath tumor) localized in the stomach.


Renal tubular epithelial cell detachment

Tubular cross section with a space between the basolateral aspect of tubular epithelium and its basement membrane; classified as global when at least 2/3 circumference of the tubular cross section are involved and segmental when less than 2/3 are involved.


Elevated circulating linoleylcarnitine concentration

Increased concentration of linoleylcarnitine in the blood circulation.


Focal aware emotional seizure with paranoia

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


Decreased circulating apolipoprotein C-II concentration

Reduced concentration of apolipoprotein C-II in the blood circulation.


Abnormal alpha granules

Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury.


Sensory behavioral abnormality

Abnormal sensory behavior, including avoiding or seeking sensory input or difficulty modulating sensory stimuli.


Beta-EEG

EEG dominated by diffuse beta-waves (>13 Hz).


Abnormal 4th metacarpal morphology

Any abnormality of the fourth metacarpal bone.


Abnormal glomerular capillary lumen morphology

Abnormal structural characteristics of the interior space of the capillary of the renal glomerulus.


Periventricular white matter hypodensities

Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.


Pseudoepiphyses of the distal phalanges of the hand

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


Microvesicular hepatic steatosis

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


Enlarged naris

Increased aperture of the nostril.


Flattened metacarpal heads

Abnormally flat shape of the heads of the metacarpal bones.


Enlarged epiphysis of the proximal phalanx of the 5th finger

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