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

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

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


Abnormality of the pylorus

An abnormality of the pylorus.


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

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

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.


Abnormally increased motivation

An excessive increase in goal-directed behavior, that is, motivation, is the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action. It also includes an excessive increase in non goal-directed movement or activity.


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.


Diverticulosis of trachea

Tracheal diverticula are blind-ended outpouchings arising from the trachea. They are usually an incidental finding. Occasionally they can mimic pneumomediastinum. Tracheal diverticula are either congenital or acquired, in the latter case the most common causes are prolonged increased intraluminal pressure, e.g. chronic cough, COPD, tracheomalacia, and iatrogenic (e.g. post-surgical).


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.


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.


Decreased circulating myo-inositol concentration

Concentration of myo-inositol in the blood circulation below the lower limit of normal.


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.


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 skeletal muscle morphology

A structural abnormality of a skeletal muscle.


Abnormal respiratory system morphology

A structural anomaly of the respiratory system.


Misalignment of incisors

Misaligned incisor.


Gustatory hallucination

Perception of taste without gustatory stimulus.


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.


Abnormal circulating glutamine concentration

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


Abnormal circulating phospholipid concentration

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


Enteric neuronal degeneration

Deterioration of enteric neurons with impairment of enteric neuronal structure. Typical neuropathological findings include qualitative (e.g., neuronal swelling, intranuclear inclusions, axonal degeneration) and quantitative (e.g., reduction in the number of neurons) abnormalities of the enteric neurons.


Osteolytic defects of the middle phalanx of the 2nd finger

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


Small epiphysis of the distal phalanx of the thumb

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


Elevated circulating dodecenoylcarnitine concentration

An abnormally increased circulation of dodecenoylcarnitine, C12:1, in the blood circulation.


Esophageal food impaction

A piece of food that has gotten stuck in the esophagus and prevents further swallowing.


Thickened glomerular basement membranes with no electron dense deposits

Prominent glomerular basement membrane (GBM) reflecting an increase in thickness (subjective estimate) with no evidence of electron dense deposits by electron microscopy.


Recurrent viral pneumonia

Increased susceptibility to viral pneumonia, as manifested by recurrent episodes of viral pneumonias.


Aplasia/Hypoplasia of the radius

A small/hypoplastic or absent/aplastic radius.


Cauliflower deformity of dermal collagen fibrils

An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electron microscopy.


Fractured phalanx

A partial or complete breakage of the phalanx.


Abnormality of the gallbladder

An abnormality of the gallbladder.


Multiple carpal ossification centers

A delay in the process of formation and maturation of the epiphysis of one or more long bones.


Submucous cleft hard palate

Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.


Absent internal auditory canal

Aplasia of the internal auditory canal.


Anti-laminin 6 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-6.


Increased CSF glycine concentration

Abnormally increased levels of glycine in cerebrospinal fluid.


Symphalangism affecting the proximal phalanx of the 3rd finger

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


Polysyndactyly of hallux

Combined syndactyly and polydactyly of the great toe.


Congenital shortened small intestine

Substantially shortened length of the small intestine as a result of a developmental defect.


Yellow papule

A papule with yellow color.


Impaired binding of factor VIII to VWF

Impaired binding of factor VIII to von Willebrand Factor. This is determined using a modified ELISA assay.


Reduced renal corticomedullary differentiation

Reduced differentiation between renal cortex and medulla on diagnostic imaging.


Abnormal CNS myelination

An abnormality of myelination of nerves in the central nervous system.


Anti-centromere protein B antibody positivity

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


Abnormal left ventricular end-diastolic volume

Any deviation from the normal range of end-diastolic volume of the left ventricle, which is the volume of blood in the left ventricle at the end of diastole (just before systole).


Elevated circulating methylsuccinic acid concentration

Increased concentration of methylsuccinic acid in the blood circulation.


Complete duplication of the middle phalanx of the 3rd finger

Complete duplication of the middle phalanx of middle finger.


Abnormal nervous system morphology

A structural anomaly of the nervous system.


Pseudoepiphysis of the 5th metacarpal

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


Abnormal circulating amino acid concentration

The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation.


Abnormal proximal phalanx morphology of the hand


bilateral polymicrogyria

Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection.


Decreased platelet glycoprotein VI

Decreased cell membrane concentration of glycoprotein VI.


Radial deviation of the hand or of fingers of the hand


Excessive hand washing

Hand washing behavior that is excessive for the situational context.


Simple febrile seizure

A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance.


Fused labia minora

Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction.


A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein.


Increased serum bile acid concentration

An increase in the concentration of bile acid in the blood.


Laryngeal cartilage malformation

A malformation of the laryngeal cartilage.


Increased LH response to gonadotropin-releasing hormone stimulation test

An abnormally high amount of luteinizing hormone (LH) is released upon gonadotropin-releasing hormone stimulation test.


Abnormal morphology of female internal genitalia

An abnormality of the female internal genitalia.


Abnormal carpal morphology

An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate).


Biceps areflexia

Inability to elicit biceps tendon reflex.


Duodenal polyposis

Presence of multiple polyps in the duodenum.


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


Absent paranasal sinuses

Aplasia of the paranasal sinuses.


Eye poking

Repetitive pressing, poking, and/or rubbing in the eyes.


Abnormal movements of the upper extremities.


Anti-GABA(A)R antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid A receptor, i.e., GABA(A)R.


Focal aware cognitive seizure with deja vu/jamais vu

A focal cognitive seizure with deja vu / jamais vu characterized by retained awareness throughout the seizure.


Temporal lobe dysplasia

A developmental defect of the temporal lobe of the cerebral cortex that is characterized by prominent sulcations and radially directed gyrations.


Inactivating thyroid-stimulating hormone receptor defect

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


Elevated urinary carboxylic acid

An increased amount of carboxylic acid in the urine.


Multifocal neonatal sequential seizure

Multifocal 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 multifocal signs.


Short greater sciatic notch

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


Abnormal lumbar spine morphology

Any structural abnormality of the lumbar vertebral column.


Tubular basement membrane disintegration

DIsruption and breaking up of the basement membrane of the tubules of the kidney.


Heliotrope rash

In a heliotrope rash, the color of the skin turns to violet, which is the color of the heliotrope flower.


Reduced CSF pyridoxal-5'-phosphate concentration

The concentration of pyridoxal-5'-phosphate in the cerebrospinal fluid (CSF) is below the lower limit of normal.


Increased circulating adrenic acid concentration

An increased concentration of adrenic acid (also known as cis-7,10,13,16-Docosatetraenoic acid) in the blood circulation.


Abnormal hair morphology

An abnormality of the hair.


Placental mesenchymal dysplasia

Placental mesenchymal dysplasia is a rare anomaly characterized by placentomegaly, dilatation of chorionic vessels and hydropic stem villi with cistern-like formation. It is often clinically mistaken for a partial hydatidiform mole but there is no trophoblastic proliferation. P57 immunohistochemical expression is discordant, showing a normal positive expression in the cytotrophoblastic cells, and loss of expression in the stromal cells.


Hypokalemic hypochloremic metabolic alkalosis


Fullness of paranasal tissue

Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues.


Fungal hyphae in sputum

Presence of hyphae (long, branching, filamentous structures produced by fungi) in sputum.


Femoral artery duplication

A developmental defect characterized by the presence of a supernumerary femoral artery.


Interlobular vein intimal mucoid edema

Accumulation of edematous extracellular matrix in the intima of the interlobular vein of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining.


Abnormal distribution of CD56 bright/dim natural killer cells

An abnormal distribution in the number of CD56 bright NK cells, as measured by flow cytometry. CD56, an adhesion molecule mediating homotypic adhesion, is used as a functional marker for NK cells.


Aplasia/Hypoplasia of the proximal phalanx of the 4th finger


Congenital lactic acidosis

A form of lactic acidemia with congenital onset.


Flared radial metaphysis

The presence of a splayed (i.e.,flared) metaphyseal segment of the radius.


Collagenoma

A rare hamartomatous malformation characterized by the predominant proliferation of normal collagen fibers and normal, decreased, or increased elastic fibers. Collagenomas may be solitary or multiple, sporadic, acquired or inherited.


Increased circulating creatine kinase MB isoform

An increased concentration of the MB isoform of creatine kinase in the blood circulation.


Posteriorly placed anus

Posterior malposition of the anus.


Abnormal alcohol consumption

Alcohol abuse or dependence.


Atlantoaxial abnormality

An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae.


Tympanic membrane bulging

The tympanic membrane protrudes (swells outwards). This feature may be observed with otoscopy.


Increased carrying angle

An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm.


Skin dimple

Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation.


shoulder impingement syndrome

Compression of the rotator cuff tendons and subacromial bursa between the humeral head and structures that make up the coracoacromial arch and the humeral tuberosities. This condition is associated with subacromial bursitis and rotator cuff (largely supraspinatus) and bicipital tendon inflammation, with or without degenerative changes in the tendon. Pain that is most severe when the arm is abducted in an arc between 40 and 120 degrees, sometimes associated with tears in the rotator cuff, is the chief symptom. (From Jablonski's Dictionary of Syndromes and Eponymic Diseases, 2d ed)


Irregular epiphysis of the middle phalanx of the 3rd finger

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


Small epiphyses of the 4th finger

Abnormally small size of the epiphyses of the 4th finger with respect to age-dependent norms.


Short 5th finger

Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger.


Triceps hyporeflexia

Reduced intensity of the triceps tendon reflex.


Abnormality of the sublingual glands

Any abnormality of the sublingual glands, which are the salivary glands that are located beneath the floor of the mouth anterior to the submandibular glands.


Hypoplastic distal humeri

Underdevelopment of the distal portion of the humerus.


Abnormal circulating thyroxine-binding globulin concentration

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


Irregular epiphyses of the phalanges of the hand

Irregular radiographic opacity of the epiphyses of the phalanges of the fingers.


Decreased social interactions

A decrease in the frequency, intensity, or extent of social or personal exchanges between individuals.


Abnormal circulating luteinizing hormone concentration

An anomaly of the circulating level of luteinizing hormone (LH).


Abnormal cranial nerve physiology

A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.


Spinal cord granuloma

An aggregation of macrophages (forming in response to chronic inflammation) localized in or on the spinal cord.


supernumerary nostril

Supernumerary nostril is an extremely rare congenital malformation characterized by the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of face.


Abnormality of thyroid physiology

An abnormal functionality of the thyroid gland.


Abnormality of the musculature of the lower limbs


Short 2nd toe

Underdevelopment (hypoplasia) of the second toe.


Abnormal liver physiology

Any functional anomaly of the liver.


Positive Murphy sign

Murphy's sign is elicited in patients with acute cholecystitis by asking the patient to take in and hold a deep breath while palpating the subcostal region. In practice, Murphy's sign is performed by palpating the subcostal region during inspiration. If pain is elicited and the patient suddenly stops their inspiratory effort, a positive Murphy's sign has been elicited.


lymphatic vessel neoplasm

A benign or malignant neoplasm arising from the lymphatic vessels.


Palmar pruritus

Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand.


Pseudoepiphysis of the distal phalanx of the 3rd finger

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


Fibrillary glomerular subepithelial deposits

A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).


Aphthous ulcer

Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.


Cortical diaphyseal thickening of the upper limbs


Anti-hY-RNA complex antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro60.


Absence seizure with eyelid myoclonia

An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterised by forced upward jerking of the eyelids during an absence seizure.


Tapered toe

The gradual reduction in girth of the toe from proximal to distal.


Abnormality of the epiphysis of the 4th metacarpal

Any abnormality of the epiphysis of the 4th metacarpal bone.


Widely spaced primary teeth

Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia.


Adrenal cortical sclerosis

Abnormal thickening of of the outer layer (cortex) of the adrenal gland due to fibrosis.


Cyclic neutropenia in myeloid maturation arrest in bone marrow

Cyclic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow.


Williams-Campbell syndrome

A congenital or acquired abnormality of the wall of the bronchi. In congenital cases, there is lack of rigidity in the cartilage of the bronchial wall. In acquired cases, the cartilage of the bronchial wall is degenerated, secondary to tracheostomy or presence of a breathing tube. Symptoms include noisy breathing and wheezing.


anorectal malformation

An abnormality of the anus or rectum.


Nail bed telangiectasia

Telangiectases in the area of the nails.


Hyperkeratotic papule

A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically).


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


Elevated circulating E selectin level

An increased concentration of E selectin in the blood circulation.


Sclerosis of the proximal phalanx of the 2nd finger


Aplasia of the uterus

Aplasia of the uterus.


Hemiatrophy

Undergrowth of the limbs that affects only one side.


Increased circulating thyroxine-binding globulin level

An elevated concentration of thyroxine-binding globulin (TBG) in the blood.


Abnormally low-pitched voice

An abnormal decrease in the pitch of the voice.


Abnormal tibia morphology

Abnormality of the tibia (shinbone).


Mixed cirrhosis

A type of cirrhosis characterized by the presence of regenerative nodules of a variety of sizes.


Limb ataxia

A kind of ataxia that affects movements of the extremities.


Renal tubular adenovirus inclusions

Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage.


Intrauterine fetal demise of one twin after midgestation

Loss of one twin occurring after midgestation (17 weeks gestation).


Irregular epiphysis of the distal phalanx of the thumb

Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb.


cleft soft palate

Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate.


Olecranon fracture

A partial or complete break in the olecranon,which is the proximal articular portion of the ulna and makes up part of the elbow.


Abnormal glomerular mesangial cellularity

Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney.


Ichthyosis follicularis

Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed.


peripheral nervous system neoplasm

A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths.


Abnormal curvature of the vertebral column

The presence of an abnormal curvature of the vertebral column.


Abnormal libido

Any deviation from the normal sexual drive or desire for sexual activity.


Pontine ischemic lacunes

Lacunes are infarcts less than 15 mm in diameter in the cortical white matter or in the corona radiata, internal capsule, centrum semiovale, thalamus, basal ganglia, or pons.


Shortening of all phalanges of the toes

Developmental hypoplasia (shortening) of all phalanges of the foot.


Absent glenoid fossa

Lack of development 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.


Anti-insulin antibody positivity

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


Hypoplasia of the antihelix

Developmental hypoplasia of the antihelix.


Delayed adrenarche

Occurence of adrenarche at a later than normal age. Adrenarche normally occurs between six and eight years of age with increased adrenal androgen secretion; its exact biologic role is not well understood. It is accompanied by changes in pilosebaceous units, a transient growth spurt and the appearance of axillary and pubic hair in some children, but no sexual development.


Lack of verbal response to verbal cues

A consistent failure to verbally respond to verbal cues which are intended to elicit a verbal response.


alopecia universalis congenita

The most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body.


Renal interstitial fibrosis

The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic.


Inertia

Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example).


Action tremor

A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.


Ascending tubular aorta aneurysm

An abnormal localized widening (dilatation) of the tubular part of the ascending aorta.


sternal cleft

Sternal cleft (SC) is a rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated.


Intellectual disability, progressive

The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.


Contracture of the distal interphalangeal joint of the 5th finger

Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue.


Tibial arterial calcification

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


Pulmonary chondroma

A benign cartilaginous tumors of the lung.


Abnormal distribution of cell junction proteins in buccal mucosal cells

An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43.


Ectopic adrenal gland

Abnormal anatomical location of the adrenal gland.


oophoritis

Inflammation of the ovary, generally caused by an ascending infection of organisms from the endocervix.


Proximal/middle symphalangism of 5th finger

Fusion of the proximal and middle phalanges of the 5th finger.


Decreased pancreatic acinar cell density

Number (count) of pancreatic acinar cells reduced below normal. This feature can be ascertained by pancreas biopsy.


Pointed chin

A marked tapering of the lower face to the chin.


Decreased seeking of relationships

A decrease in frequency or duration related to seeking or maintaining relationships may involve avoiding social outings or social interactions.


Cervical hemivertebrae

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


Decreased inhibin B level

A reduced concentration of inhibin B in the blood.


Cystic medial necrosis

A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells.


Stippling of the epiphysis of the middle phalanx of the 4th finger

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 4th finger.


Anetoderma

Circumscribed area of flaccid skin due to the loss of elastic tissue in the dermis.


Increased hepatitis B virus antibody level

An abnormally increased level of immunoglobulin against hepatitis B virus in the blood.


Posterior communicating artery infundibulum

A funnel-shaped symmetrical enlargement of the origin of the posterior communicating artery at its junction with the internal carotid artery.


Branchial anomaly

Congenital developmental defect arising from the primitive branchial apparatus.


HbC hemoglobin

Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a lysine (6GAG>6AAG). The presence of HbC can be determined by hemoglobin electrophoresis.


Highly elevated creatine kinase

An increased CPK level between 4X and 50X above the upper normal level.


Sclerosis of 4th finger phalanx

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


Microvillar PAS-positive secretory granules

The presenceaccumulationof periodic acid-Schiff (PAS) granules in the subapical region of small intenstinal microvilli, appearing as different kinds of vesicular/tubular structures.


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


Duplication of the proximal phalanx of the thumb

Complete or partial duplication of the proximal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. 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.


Impaired von Willebrand factor collagen binding activity

Reduced ability of von Willebrand factor (vWF) to bind collagen. Abnormal response to collagen as manifested by reduced or lacking ability of plasma von WIllebrand Factor to bind collagen. An ELISA-based assay is typically used; the test is sensitive to loss of von Willebrand Factor high molecular weight multimers.


Agenesis of premolar

Agenesis of premolar tooth.


Orofacial action-specific dystonia induced by speech


Giant platelets

Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998).


Focal aware myoclonic seizure

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


Intermittent episodes of respiratory insufficiency due to muscle weakness


Chin with horizontal crease

Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest.


Complete duplication of the middle phalanx of the 4th toe

Complete duplication of middle phalanx of fourth toe.


Contracture of the distal interphalangeal joint of the 2nd toe

The distal interphalangeal joint of the 2nd toe cannot be straightened actively or passively.


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


Stiff interphalangeal joints

Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity.


Abnormally folded helix

Any structural anomaly of the border of the helix, which usually forms a rolled rim but is highly variable in shape.


Shortening of all distal phalanges of the fingers

Hypoplasia of all of the distal phalanx of finger.


Agenesis of second permanent molar

Agenesis of either mandibular second permanent molar or maxillary second permanent molar.


Patchy sclerosis of the proximal phalanx of the 5th finger

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


cervical intraepithelial neoplasia

Squamous or glandular intraepithelial neoplasia that affects the cervical mucosal epithelium. There is no evidence of stromal invasion. According to the degree of cellular atypia and the associated architectural changes, it is classified as low or high grade.


Generalized lymphadenopathy

A generalized form of lymphadenopathy.


Early cutaneous photosensitivity

Photosensitivity of the skin occurring early in life.


gait apraxia

Impaired ambulation not attributed to sensory impairment or motor weakness. frontal lobe disorders; basal ganglia diseases (e.g., parkinsonian disorders); dementia, multi-infarct; alzheimer disease; and other conditions may be associated with gait apraxia.


Photosensitive myoclonic seizure

Generalised myoclonic seizure provoked by flashing or flickering light.


Elevated circulating deoxyuridine concentration

Concentration of 2-deoxyuridine in the blood circulation is above the normal range.


Heinz bodies

A type of erythrocyte inclusion composed of denatured hemoglobin.


Cotard delusion

A false belief that you or your body parts are dead, dying, or do not exist.


Broad palm

For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.


Absent crus of helix

Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha.


Incomplete cleft hard palate

Cleft hard palate in which the cleft does not go through the entire length of the hard palate, ie. the cleft does not go from the incisor foramen to the anterior border of the soft palate.


blood vessel neoplasm

A neoplasm arising from arteries or veins.


Homoargininuria

An increased amount of homoarginine in the urine. Homoarginine is a nonproteinogenic alpha amino acid.


Abnormal inferior thyroid vein morphology

An abnormality of an inferior thyroid vein.


Archibald's sign

Shortening of the fourth and fifth metacarpals when the fist is clenched.


Parathyroid hypoplasia

Developmental hypoplasia of the parathyroid gland.


Increased level of L-pyroglutamic acid in urine

An increase in the level of L-pyroglutamic acid in the urine.


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


Pulmonary lymphangiectasia

Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid.


Cortical radial artery intraluminal thrombi

Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen within the interior space of cortical radial arteries (interlobular arteries) of the kidney.


Fourth heart sound

The fourth heart sound (S4) is a low-pitched sound that occurs just before the first heart sound (S1) when the atria contract to force blood into the left ventricle, that is, coincident with late diastolic filling of the ventricle due to atrial contraction.


Myocardial late gadolinium enhancement

Areas of high signal intensity in magnetic resonance imaging of the heart appearing 10 to 15 minutes after injection of the intercellular contrast agent gadolinium.


Increased circulating very long-chain fatty acid concentration

Increased concentation of very long-chain fatty acids in the blood circulation. Very long-chain fatty acids are fatty acids (FAs) with a chain-length of 22 or more carbons.


Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina.


Convex contour of sole

The contour of the foot in lateral profile has a convex shape.


spondylosis, cervical

Arthritis of the cervical spine.


Abnormal circulating thyroid hormone concentration

Any deviation from the normal range of the hormones produced by the thyroid gland.


Renal arteriolar intraluminal thrombi

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


Widened atrophic scar

An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility.


Abnormal language feature

The presence of any atypical form of expressive language.


hypochromic microcytic anemia

Anemia in which the circulating RBCs are smaller than the usual size of RBCs (microcytic) and have decreased red color (hypochromic).


Enlarged Eustachian valve

An abnormally large Eustachian valve (postnatally). The Eustachian valve is also known as the valve of the inferior vena cava, and is an embryologic remnant of the valve of the inferior vena cava.


acute megakaryoblastic leukemia

Acute megakaryoblastic leukemia (AMKL) is a form of acute myeloid leukemia (AML) that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis.


Rhomboid or triangular shaped 5th finger middle phalanx

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


Elevated circulating pipecolic acid concentration

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


Thickening of glomerular capillary wall

Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself.


Elevated left ventricular end-diastolic diameter

The LV end-diastolic internal diameter was measured from two-dimensional (2D) images in the parasternal long-axis view, timed with mitral valve closure at the level of the mitral valve chordae.


Flexion contracture of the 2nd finger

Chronic loss of joint motion in the 2nd finger due to structural changes in non-bony tissue. The term camptodactyly of the 2nd finger is used if the distal and/or proximal interphalangeal joints are affected.


congenital coronary artery anomaly

Any structural abnormality of the coronary arteries.


Triangular epiphysis of the proximal phalanx of the hallux


Eye of the tiger anomaly of globus pallidus

The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity of the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. The sign is thought to represent iron accumulation in the globus pallidus.


Triceps weakness

A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements.


Penetrating aortic ulcer

A focal defect in the elastic lamina of the aortic wall that leads to localized medial disruption and potential rupture.


anomalous left coronary artery from the pulmonary artery

A congenital coronary vessel anomaly in which the left main coronary artery originates from the pulmonary artery instead of from aorta. The congenital heart defect typically results in coronary artery fistula; left-sided heart failure and mitral valve insufficiency during the first months of life.


Short distal phalanx of the 5th finger

Hypoplastic/small distal phalanx of the fifth finger.


Abnormal renal glomerulus morphology

A structural anomaly of the glomerulus.


Duplication of the distal phalanx of the 3rd finger

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


Hypoplasia of latissimus dorsi muscle

Underdevelopment of the latissimus dorsi muscle, which is involved in adduction, extension, internal rotation, and transverse extension of the shoulder and assists in movement of the scapula.


Slender finger

Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.


Fractured middle phalanx of manual digit 3

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


Small epiphyses of the distal phalanges of the hand


Acute disseminated intravascular coagulation

An acute form of disseminated intravascular coagulation. Acute DIC can occur following sudden exposure of blood to procoagulants, with the compensatory hemostatic mechanisms becoming overwhelmed.


Rete ridge flattening

Rete pegs (or ridges) are the epithelial extensions that project into the underlying connective tissue in both skin and mucous membranes. Rete ridge flattening refers to the loss of these projections so that the skin epithelium acquires a relatively flat appearance.


Sclerosis of 3rd finger phalanx

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


Triangular shaped distal phalanx of the 4th finger

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


Motor axonal neuropathy

Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg.


Increased circulating selenium concentration

An increased concentration of selenium in the blood circulation.


Anagen effluvium

An abnormal loss of anagen (growth phase) hairs.


Focal aware cognitive seizure with anomia

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


Transient decreased circulating IgA

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


Cone-shaped epiphysis of the proximal phalanx of the 2nd finger


Abnormal mouth floor morphology

Any abnormality of the mouth floor.


Monoclonal elevation of IgG lambda chain

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


Renal glomerular amyloid deposition

Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries.


Abnormal lower motor neuron morphology

Any structural anomaly of the lower motor neuron.


Paradoxical splitting of the second heart sound

Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. With paradoxical splitting, there is a delay in the closure of the aortic valve, so that A2 can follow P2; the individual components can be appreciated at the end of expiration and the interval narrows with inspiration (which is the oposite of the normal pattern).


chromhidrosis

A rare condition characterized by the secretion of colored sweat, caused by the deposition of lipofuscin in the sweat glands. Usually chromhidrosis affects the apocrine glands, mainly on the face and underarms.


Mucinous colorectal carcinoma

A subtype of colorectal carcinoma with mucin lakes.


Foramen ovale aneurysm

Foramen ovale aneurysm (FOA) or atrial septal aneurysm is abnormal redundancy of the atrial septum primum, with bulging of the septum by at least half the width of the atrial chamber, or by at least 10 mm beyond the level of the atrial septum. The abnormal protrusion of the interatrial septum results in decreased left atrial volume. On color Doppler there is reduced left ventricular inflow.


Subperiosteal bone resorption

Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone.


Suck reflex

A type of primitive reflex that is elicited by lightly touching or tapping on the lips with an object such as a tongue blade, reflex hammer, or the examiner's finger. At times the reflex is obtained merely by approaching the lips with an object. A positive suck reflex consists of sucking movements by the lips when they are stroked or touched.


Transphyseal fracture of the distal humerus

A fracture through the distal humeral physis that separates the entire distal humeral epiphysis from the metaphysis.


Inappropriate crying

Uncontrolled episodes of crying occur without any apparent motivating stimuli.


Angulated antihelix

Antihelical ridge that forms an acute angle between the antitragus and its bifurcation (stem) instead of a gently curving arc.


Duplication of the middle phalanx of the 2nd toe

Partial or complete duplication of middle phalanx of second toe.


Renal medullary interstitial inflammation

Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells.


Hypoplastic nasal septum

Underdevelopment of the nasal septum.


Overlapping toe

Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent.


Aplasia of the pyramids of the medulla oblongata

Congenital absence of the pyramids, that is, of the paired structures located at the medial aspect of the ventral medulla that flank the anterior median fissure.


Genital edema

A buildup of fluid that causes swelling in the soft tissues of the genital area.


Asymmetric abdominal aortic aneurysm

An abdominal aortic aneurysm that is not symmetric around its axis (not axisymmetric).


Abnormal papillary muscle morphology

Any structural anomaly of the papillary muscles of the left ventricle.


rhabdoid tumor

An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor.


Triceps hypoplasia

Hypoplasia of the triceps muscle.


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

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


Partial duplication of the middle phalanx of the 3rd toe

Partial duplication of middle phalanx of third toe.


Abnormal cerebral vascular morphology

An anomaly of the cerebral blood vessels.


Elevated CSF dihydrouracil concentration

The concentration of dihydrouracil in the cerebrospinal fluid (CSF) is above the upper limit of normal.


Increased serum prostaglandin E2

An increased concentration of prostaglandin E2 in the blood.


Anti-FGFR3 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against FGFR3.


Corticotropin-releasing hormone deficient adrenal insufficiency

Adrenal insufficiency secondary to a defect in corticotropin-releasing hormone production.


Abnormal morphology of the limbic system

Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex].


Abnormality of the distal phalanx of the 3rd finger


Fixated interest with abnormal intensity

An abnormally intense interest in a topic or object that is not atypical for the social context of the affected person.


Proximal/middle symphalangism of 3rd toe

Bony fusion of the middle and proximal phalanges of the 3rd toe.


Loss of ability to walk in early childhood


Abnormality of prothrombin

An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade.


Broad columella

Increased width of the columella.


Abnormal oral frenulum morphology

An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity.


Anti-Zic4 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Zic family member 4 (ZIC4).


arrhinia

Arrhinia is an extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia.


Enlarged epiphysis of the proximal phalanx of the hallux


Delayed ossification of the hand bones

Ossification of hand bones is less advanced than would be expected according to age-adjusted norms.


Right aortic arch with left descending aorta and left ductus arteriosus


Hypoplasia of serratus anterior muscle

Underdevelopment of the serratus anterior muscle, which is involved in abduction, upward Rotation, and elevation of the scapula.


Malformation of mandibular premolar

An abnormality of the morphology of secondary premolar tooth.


Abnormal S wave

Any anomaly of the S wave, which is the third component of the QRS wave complex. The S wave signifies the final depolarization of the ventricles at the base of the heart.


Deficit applying language skills across context


Abnormal dense tubular system

An anomaly of the intracellular membrane complexes known as the dense tubular system.


Enhanced ristocetin cofactor assay activity

Abnormal response to ristocetin as manifested by increased aggregation of platelets upon addition of low-dose ristocetin to platelet-rich plasma.


non-syndromic amelia

A congenital malformation characterized by the complete absence of all limbs.


Coronary-pulmonary artery fistula

A congenital malformation with abnormal connection between one of the coronary arteries and the pulmonary artery.


Reduced natural killer cell count

Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor.


hypercementosis

A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed)


Focal sensory seizure with visual features

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


Neonatal focal clonic seizure

Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is unilateral regularly repeating jerking involving the same muscle groups.


Childhood onset short-limb short stature


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

Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger.


Signet ring sign

This finding is composed of a ring-shaped opacity representing a dilated bronchus in cross section and a smaller adjacent opacity representing its pulmonary artery, with the combination resembling a signet (or pearl) ring. It is the basic sign of bronchiectasis in pulmonary computed tomography imaging.


Absent sebaceous glands

Absence of the sebaceous gland, the holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts.


Abnormal Bowman capsule morphology

A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule.


hyperprolinemia

Hyperprolinemia is when there isan excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms:hyperprolinemia type1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern.


Decreased circulating IgG1 level

A reduction in immunoglobulin levels of the IgG1 subclass in the blood circulation.


Microscopic nephrocalcinosis

The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma.


Maternal hyperphenylalaninemia

A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy.


congenital pulmonary veins anomaly

Aberrant drainage of one or more of the pulmonary veins which causes the return of oxygen-rich blood to the right atrium.


Aplasia of the inferior half of the cerebellar vermis


Decreased circulating renin level

An decreased level of renin in the blood.


Focal impaired awareness cognitive seizure with deja vu/jamais vu

A focal cognitive seizure with deja vu / jamais vu characterized by impairment of awareness at some point during the seizure.


Abnormal upper limb epiphysis morphology


Cardiac valve calcification

Abnormal calcification of a cardiac valve.


Pseudoepiphysis of the distal phalanx of the 2nd toe


Metaphyseal rarefaction

Reduction in density of metaphyseal bony tissue.


Overfolding of the superior helices

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


Reduced platelet dense granules

Decreased number of platelet dense granules, a type of platelet organelle.


Abnormality of blood volume homeostasis

An abnormality in the amount of volume occupied by intravascular blood.


Reduced reticular lamina anchoring fibril density

Diminished amount of the anchoring fibrils in the basement membrane zone that normally attach the epithelium to the basement membrane.


dens evaginatus

Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown).


Stippling of the epiphyses of the 5th finger

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


Multiple joint dislocation

Dislocation of many joints.


Arcuate artery endoarterial foam cell hypercellularity

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


Acute hepatic steatosis

An acute form of hepatic steatosis.


Flared distal fibular metaphysis

The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula.


Amelia involving the upper limbs

Amelia of one or both upper limbs.


Anti-H3-H4 antibody positivity

The presence of autoantibodies in the blood circulation that react against the H3-H4 histone dimer.


Abnormal incisura morphology

An abnormal shape of the incisura, defined as the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by the antitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. The upper boundary is a somewhat arbitrary line crossing from the apices of the antitragus and the tragus.


Redundant neck skin

Excess skin around the neck, often lying in horizontal folds.


Decreased sexual behavior

Absence of sexual attraction, behaviors, and interest that are different from the person's normal state.


corpus callosum lipoma

A rare benign adipose tissue neoplasm of the corpus callosum.


Abnormal parathyroid morphology

A structural abnormality of the parathyroid gland.


Premature epimetaphyseal fusion in tibia

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


Reduced sex -hormone binding protein level

A decreased concentration of sex-hormone binding protein in the circulation.


Knee contracture

Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the knee joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.


Increased social interactions

An increase in the frequency, intensity, or extent of social or personal exchanges between individuals.


Focal impaired awareness cognitive seizure with forced thinking

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


Hypoplasia of the radius

Underdevelopment of the radius.


Redundant skin

Loose and sagging skin often associated with loss of skin elasticity.


Enlarged platelet dense granules

Increased size of platelet dense granules.


Pleural rub

An abnormal breath sound that is nonmusical, short and explosive. It is grating, rubbing, creaky, or leathery in character and present in both phases of respiration. Typically the expiratory component mirrors the inspiratory component. It occurs due to inflamed pleural surface rubbing each other during breathing. Clinically, it is important to differentiate it from crackles


Sexsomnia

Unintentional sexual behavior during sleep, such as masturbation, initiation of sex, or making sexual noises, is known as sexsomnia. Sexsomnia predominantly occurs during NREM sleep.


Limb-girdle muscle weakness

Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis.


Glomerular hyaline pseudothrombus

Intracapillary amorphous, eosinophilic material consisting of immune deposits.


Osteolytic defects of the distal phalanx of the 2nd finger

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


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


Multilamellation of medullary peritubular capillary basement membranes

Duplicated basement membranes of the peritubular capillaries located in the medulla of the kidney and arranged in multiple concentric layers.


Decreased level of thrombomodulin

Thrombomodulin is a cofactor in the thrombin induced activation of Protein C. In the case of deficiency there will be less Protein C and tendency to clot


Traction bronchiectasis

Distortion of the bronchial airways due to mechanical traction on the bronchi resulting from fibrosis of the surrounding lung parenchyma. CT findings represent irregular bronchial dilatation caused by surrounding retractile pulmonary fibrosis. Dilated airways are usually identifiable as such but may be seen as cysts.


Intellectual disability, moderate

Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.


Abnormal manganese concentration

A deviation from the normal range of manganese in the blood circulation.


primary ciliary dyskinesia

A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).


Palate mass

A lump in the region of the palate. A mass is any lump in the body that can be caused by the abnormal growth of cells, a cyst, hormonal changes or an immune reaction. Typically a mass is an initial finding that will lead to additional workup.


Decreased lymphocyte proliferation in response to mitogen

A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA).


Abnormal circulating hormone concentration

Concentration of a hormone in the blood circulation outside of normal limits.


Glomerular subepithelial deposits

Deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature may be associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).


Intermittent hyperventilation

Episodic hyperventilation.


Intratubular calcium oxalate casts

Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney.


Hypermelanotic macule

A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.


White streaks/specks on enamel.

Areas of white discoloration visible on the surface of the teeth (enamel) in the form of streaks or specks.


pilocytic astrocytoma

Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but ocurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported.


Ulnar metaphyseal irregularity

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


capillary malformation

A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules).


Abnormal arachnoid mater morphology

An abnormality of the Arachnoid mater.


Pulmonary arterial hypertension with positive acute response to NO challenge

A form of pulmonary arterial hypertension in which there is a reduction of mean pulmonary artery pressure (mPAP) at leasy 10 mmHg to reach an absolute value of mPAP not more than 40 mmHg with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm.


Aortic smooth muscle cell disorganization

Nonparallel arrangement/disarray of smooth muscle cells of the aortic media creating focal/multifocal disarray or sometimes nodular aggregates of smooth muscle cells.


Abnormal superficial reflex

An anomaly of a reflex that is elicited as a motor response to scraping of the skin. They are generally graded as present or absent. They differ from tendon reflexes in that the sensory signal must ascend the spinal cord to reach the brain and then descend the spinal cord to reach the motor neurons.


Bullet-shaped middle phalanges of the hand

Any of the middle phalanges with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Abnormal dendritic cell count

A deviation from the normal count of dendritic cells in the peripheral blood circulation. Dendritic cells are of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative).


Carpal synostosis

Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).


Abnormal metatarsal ossification

Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years.


Angel-shaped phalanx

A phalangeal malformation that is termed angel-shaped phalanx (ASP), because of its resemblance to the angels used for decoration of Christmas trees. The various components of an angel-shaped phalanx are: diaphyseal cuff (wings), surrounding a meta-diaphyseal core (body), which may appear empty or structured with a cone-shaped epiphysis (skirt) and pseudoepiphysis (head).


Abnormal circle of Willis morphology

An anomaly of the circle of Willis, also known as the cerebral arterial circle.


Cutaneous syndactyly of toes

A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria.


Increased anti-insect IgE antibody level

Increased level of IgE antibody against antigens from insects such as moths, mosquitos, or cockroaches.


Abnormal clitoris morphology

Any structural abnormality of the clitoris.


Increased circulating ceruloplasmin concentration

Elevated concentration of ceruloplasmin in the blood circulation.


Distal tibial bowing

A bending or abnormal curvature of the distal portion of the tibia.


Osteochondroma

A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone.


Reduced FEV1/FVC ratio

Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity).


Sclerosis of the proximal phalanx of the hallux


Premature epimetaphyseal fusion in hand

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


EEG with parietal sharp slow waves

EEG with sharp slow waves in the parietal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.


Abnormality of glycolysis

An abnormality of glycolysis.


Increased circulating inosine concentration

An increased concentration of inosine in the blood circulation.


Ivory epiphyses of the distal phalanges of the hand

Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.


Abnormal TSH response to thyrotrophin-releasing hormone stimulation test

Thyrotrophin-releasing hormone (TRH) is a hypothalamic tripeptide synthesized by, stored within, and released from the hypothalamus. It stimulates the synthesis and release of thyroid-stimulating hormone (TSH) from the anterior pituitary gland. Following administration of exogenous TRH, a transient increase in serum TSH is expected. This term refers to an abnormal response in the TRH stimulation test.


Abnormal glomerular mesangial matrix morphology

Any structural anomaly of the glomerular matrix. Mesangial cells generate and embed in their own extracellular matrix. The mesangial matrix is different in composition from the glomerular basement membrane. Its constituents are type IV collagen (but only the alpha1 and alpha2 chains); type V collagen; laminin A, B1, and B2; and considerable amounts of fibronectin, heparan sulfate and chondroitin sulfate proteoglycans, entactin, and nidogen. Furthermore, small amounts of the proteoglycans decorin and biglycan are found in the mesangial matrix.


Global proximal tubulopathy

A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis.


Persistence of hemoglobin F

Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent.


Parkinsonism with favorable response to dopaminergic medication

Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication.


Short distal phalanx of the 4th finger

Hypoplastic/small distal phalanx of the fourth finger.


Molarization of premolar

Increased size and molar morphology of premolar tooth.


Short finger

Abnormally short finger associated with developmental hypoplasia.


autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius

Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum.


Aplasia/Hypoplasia of toe

Absence or hypoplasia of toes.


Bilateral asymmetric neonatal sequential seizure

Asymmetric 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 asymmetrically with a variety of clinical and electrographic signs, often changing lateralization within or between seizures.


Triangular shaped middle phalanges of the hand


Aplasia/hypoplasia involving bones of the hand

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


Midline direction of ventricular apex

Abnormal plane of direction of the heart from the base to the apex in the midline. Left sided is normal.


Short 2nd finger

Hypoplasia of the second finger, also known as the index finger.


Dense calcifications in the cerebellar dentate nucleus


Focal cognitive seizure with receptive dysphasia/aphasia

A focal cognitive seizure characterized by receptive dysphasia / aphasia as the initial semiological manifestation.


Mesomelia

Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.


Aglossia

Absence of the tongue owing to a developmental abnormality.


Beta-alaninuria

An increased level of beta-alanine in the urine.


phosphaturic mesenchymal tumor

An extremely rare, benign or malignant mesenchymal tumor arising from the soft tissues or bones. It is a distinctive tumor, which usually displays the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called osteogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor.


Glomerular basement membrane lucencies

Lucent zones within the glomerular basement membranes. May reflect remote/resolved deposits.


cardiac diverticulum

Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse.


Abnormality of renal excretion

An altered ability of the kidneys to void urine and/or specific substances.


Fractured proximal phalanx of digit 5

A partial or complete breakage of the proximal phalanx of digit 5.


Reduced consciousness

Abnormally diminished level of attention, responsiveness, or wakefulness.


Portal vein hypoplasia

A developmental defect characterized by underdevelopment of hte portal vein.


Increased HbA2 hemoglobin

An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia.


Decreased pineal volume

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


Triangular shaped phalanges of the 4th toe


Renal vasculitis

Vasculitis (inflammation of blood vessels) in the kidney. Renal vasculitis can be observed with numerous disorders and presents clinically as rapidly progressive glomerulonephritis (RPGN) which is characterised by acute kidney injury (AKI), haematuria and proteinuria. Histological examination of the kidney reveals severe inflammation in the form of crescent formation, glomerular necrosis and vasculitis of small and medium sized vessels within the kidney.


Duplication of phalanx of toe

Partial/complete duplication of one or more phalanx of toe.


Abnormality of the midnasal cavity

Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae.


Pubertal developmental failure in females


Compression-fractured cervical vertebra

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


Cortical radial artery endotheliosis

Enlargement of endothelial cells of the cortical radial arteries (also known as the interlobular arteries) of the kidney because of cytoplasmic swelling.


Semantic dementia

A progressive loss of the ability to remember the meaning of words, faces and objects.


Congenital stapes ankylosis

A form of stapes ankylosis with congenital onset.


Focal impaired awareness sensory seizure with somatosensory features

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


Aplasia/Hypoplasia of the colon

Congenital absence or underdevelopment of the colon.


Absent specific antibody response

Absence of specific immunoglobulins directed against a specific antigen or microorganism.


Thymic cyst

A closed sac of tissue (cyst) located in the thymus. Thymic cysts are a rare, benign anomaly, are usually asymptomatic, and mostly occur in the anterior mediastinum .


Anti-Lrp4 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against low-density lipoprotein receptor (Lrp4).


Symphalangism affecting the distal phalanx of the 3rd toe


Cutaneous telangiectasia

Dilated blood vessels on the skin.


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


Complete duplication of the proximal phalanx of the 5th finger

Complete duplication of the fifth proximal phalanx of hand.


Ivory epiphysis of the 1st metacarpal

The epiphysis of the 1st metacarpal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs.


Symphalangism affecting the proximal phalanx of the 2nd finger

Fusion of the proximal phalanx of the 2nd finger with another bone.


Palmoplantar erythema

Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin.


Absent nail of hallux

Absent nail of big toe.


Testicular ischemia

Restriction of arterial blood supply to a testis associated with insufficient oxygenation to support the metabolic requirements of the tissue. Clinical manifestations may include pain and swelling of the affected testis.


Anti-GAD65 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamic acid decarboxylase 65 (GAD65).


Abnormal CSF carnosine concentration

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


Antidromic atrioventricular reentrant tachycardia

A type of atrioventricular reentrant tachycardia (AVRT) where the accessory pathway is used for anterograde conduction and the atrioventricular node for retrograde conduction.


Focal impaired awareness automatism seizure

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


anotia

A congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development.


Abnormal greater sciatic notch morphology

An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.


Elevated prostate-specific antigen level

An increased concentration of prostate specific antigen (PSA) in the circulation.


Aplasia/Hypoplasia of the external ear

The presence of aplasia or developmental hypoplasia of all or part of the external ear.


Increased circulating chylomicron concentration

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


Increased serum estradiol

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


Abnormal helper T cell proportion

Abnormal proportion of helper T cells relative to the total number of T cells.


choanal atresia, bilateral

Bilateral choanal atresia is a congenital anomaly that is usually sporadic (but some familial cases have been reported), is more commonly seen in females than in males (2:1), and where the nose is blocked on both sides by bony or soft tissue formed during embryological development. It is characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth.


Mandibular pain

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


Distal lower limb muscle weakness

Reduced strength of the distal musculature of the legs.


Cleft earlobe

Discontinuity in the convexity of the inferior margin of the lobe.


Patchy sclerosis of the middle phalanx of the 2nd finger

Uneven (irregular) increase in bone density of the middle phalanx of the second finger.


Extreme axis deviation

A kind of abnormal ventricular axis in the EKG whereby the QRS axis fall sbetween -90 degrees and 180 degrees. In this case, the ventricular vector is directed upward and to the right.


Supraventricular tachycardia with a concealed accessory connection

Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed becasue it is not seen on the ECG during sinus rhythm.


Ectopia of the spleen

An abnormal (non-anatomic) location of the spleen.


Neonatal epileptic spasm

A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: grimacing, head nodding, or subtle eye movements. May occur in clusters.


Irregular epiphysis of the distal phalanx of the 3rd finger

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


congenital mesoblastic nephroma

A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis.


Duplication of phalanx of the 3rd toe

Partial or complete duplication of phalanx of third toe.


Increased peripheral blast count

An increased count in the peripheral blood of cells that are precursors to mature circulating blood cells such as neutrophiles, monocytes, lymphocutes, and erythrocytes. Blasts are not usually found in significant numbers in the peripheral blood circulation, but can be observed in hematopoietic neoplasms such as leukemia, severe infections, and as a result of certain medications.


Antineutrophil antibody positivity

The presence of autoantibodies in the serum that react against neutrophils.


Short third metatarsal

Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone.


Elevated circulating carnitine concentration

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


Abnormal fifth cranial nerve morphology

Any structural abnormality of the fifth cranial nerve.


Mild hearing impairment

The presence of a mild form of hearing impairment.


Peripheral cyanosis

Bluish discoloration of the distal extremities (hands, fingertips, toes), and can sometimes involve circumoral and periorbital areas. Mucous membranes are generally not involved.


Mosaic pulmonary attenuation pattern

Mosaic attenuation refers to heterogeneous areas of differing pulmonary attenuation on CT imaging.


Decreased circulating glycerol level

A decrease below the normal concentration of glycerol in the blood.


Cleft helix

A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length.


Lower lip pit

Depression located on the vermilion of the lower lip, usually paramedian.


Accumulation of melanosomes in melanocytes


Pregnancy history

Medical history of maternal diseases, exposures, or other relevant findings during the pregnancy of which the index person was the product.


Decreased level of histidine-rich glycoprotein

Decrease of these levels result in increased inhibition of fibrinolysis and reduced inhibition of coagulation


Abnormal sacrum morphology

An abnormality of the sacral bone.


fetal lower urinary tract obstruction

An obstruction in the ureter leading to bladder outlet obstruction. Special criteria are used for lower urinary tract obstruction (LUTO) in the fetus. Prenatal LUTO has classically been suspected on the basis of three ultrasonographic findings: megacystis, dilated posterior urethra (known as the keyhole sign) and hydronephrosis.


Abnormal pituitary stalk morphology

A structural anomaly of the pituitary stalk, also known as the infundibulum or infundibular stalk, is the connection between the hypothalamus and the pituitary gland.


Unilateral facial palsy

One-sided weakness of the muscles of facial expression and eye closure.


Cerebral hamartoma

The presence of a hamartoma of the cerebrum.


Symphalangism affecting the phalanges of the hallux