Hypoplastic scapulae

Underdeveloped scapula.


Hypocalcemic tetany

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Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms.


Anti-phosphatidic acid antibody positivity

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


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


Early inspiratory crackles

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


Abnormal toenail morphology

An anomaly of the toenail.


Antisperm antibody positivity

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


hereditary geniospasm

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


postaxial polydactyly type A

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


Soft-tissue ossification around the shoulders

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


Abnormal urinary purine level

Any deviation from the normal amount of a purine compound in the urine. Purines are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. Two of the four deoxyribonucleotides (deoxyadenosine and deoxyguanosine) and two of the four ribonucleotides (adenosine, or AMP, and guanosine, or GMP) are purines.


Type 2 schizencephaly

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


Hepatic melanin-like lysosomal pigmentation

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


Dibasicaminoaciduria

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


Impaired two-point discrimination

A reduced ability to distinguish tactile sensations at points that are very close to one another. This can be tested by using special calipers whose points can be set from 2mm to several centimeters apart.


Anti-p53 antibody positivity

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


Anomalous origin of the right common carotid artery from the aorta

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


Eosinophilic gallbladder infiltration

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


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

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


Scheuermann disease

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


Tactile sensory seeking

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


Aplasia/Hypoplasia of the fallopian tube

Aplasia or developmental hypoplasia of the fallopian tube.


Focal cortical dysplasia type Ia

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


Dilatation of celiac artery

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


Sleep myoclonus

Myoclonus that occurs during the initial phases of sleep.


Broad 2nd toe

A broad appearance of the second toe.


Premature pubarche

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


Anti-HLA-A IgG3 antibody positivity

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


Small trapezoid bone

Underdevelopment of the trapezoid.


Absent brainstem auditory responses

Lack of measurable response to stimulation of auditory evoked potentials.


Abnormality of blood circulation

An abnormality of blood circulation.


Elevated circulating alpha-oxoadipic acid concentration

Concentration of alpha-oxoadipic acid in the blood above the upper limit of normal.


Sclerosis of the distal phalanx of the 4th finger


Patchy sclerosis of distal toe phalanx

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


Abnormal subcutaneous fat tissue distribution


Hypoplastic left atrium

Underdeveloped, small left heart atrium


Pallidal degeneration

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


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


Multiple muscular ventricular septal defects

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


Fragile teeth

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


Delusional memory

A delusional interpretation of a normal memory.


Hypoplasia of the frontal bone

Underdevelopment of the frontal bone.


Hyperechogenic kidneys

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


Irregular epiphysis of the distal phalanx of the 5th finger

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


Screwdriver-shaped incisors

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


Tubular shadows

Tubular shadows are characterised by a complete absence of cells in the testicular tubules, meaning that germ cells as well as somatic Sertoli cells are absent. The cells have been replaced by hyalinization.


Increased urinary transitional epithelial cell count

An increased number of transitional epithelial cells per high-power field in urinanalysis.


cholesteatoma

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


Abnormal temporal bone morphology

Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple.


Decreased CSF leucine concentration

Abnormally decreased levels of leucine in the cerebrospinal fluid.


autoimmune hypoparathyroidism

An autoimmune form of hypoparathyroidism.


Absent hallux epiphysis

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


Oligoclonal elevation of circulating IgG

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


Elevated CSF chitinase-3-like protein 1 concentration

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


Lip tremor

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


Hippocampal malrotation

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


Duplication of renal pelvis

A duplication of the renal pelvis.


absence of the pulmonary artery

Unilateral absence of the pulmonary artery (UAPA) is a rare congenital great vessels anomaly that commonly presents by dyspnea, frequent respiratory infections, hemoptysis and high-altitude pulmonary edema. UAPA is often associated with congenital heart malformation (CHM). In the absence of associated cardiac malformation (isolated UAPA; IUAPA), the condition may be asymptomatic until adult age.


Increased urinary sedoheptulose

An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group.


Urinary space collagenization

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


inherited glutathione synthetase deficiency

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


Forearm supination contracture

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


Underfolded helix

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


Normal interictal EEG

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


Maladaptive fear-related cognitions

Threat-based cognitive biases result in a skewed perception, experience, or processing of internal or external stimuli.


Type 1 congenital pulmonary airway malformation

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


Nephrotic range proteinuria

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


Abnormal cerumen color

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


Oppenheim reflex

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


Abnormal septum pellucidum morphology

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


Eruption failure

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


Postprandial fullness

Feeling excessively full after meals.


Enlarged epiphysis of the distal phalanx of the 2nd finger

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


Reduced erythrocyte free porphyrin concentration

Concentration of porphyrin in erythrocytes below the lower limit of normal.


Lack of T cell function

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


Binucleated visceral epithelial cells

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


chronic idiopathic urticaria

Chronic form of idiopathic urticaria.


Monocytopenia

An decreased number of circulating monocytes.


Aplasia/Hypoplasia of the phalanges of the 5th toe


Elevated brain lactate level by MRS

An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).


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

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


Reduced von Willebrand factor activity

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


External carotid artery dissection

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


Venom allergy

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


Abnormal circulating carnitine concentration

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


Abnormality of the philtrum

An abnormality of the philtrum.


Abnormality of inferior alveolar nerve

An abnormality of an inferior alveolar nerve.


Central nail canal

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


Elevated urinary 2-hydroxybutyric acid

An increased amount of 2-hydroxybutyric acid in the urine.


Absent epiphysis of the distal phalanx of the 5th finger

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


Rhomboid or triangular shaped 5th finger proximal phalanx

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


Small epiphysis of the proximal phalanx of the 4th finger

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


Proximal placement of hallux

Proximal mislocalization of the big toe from its normal position.


Abnormal circulating copper concentration

An abnormal concentration of copper.


Abnormal right ventricle morphology

An abnormality of the right ventricle of the heart.


atrial septal defect, coronary sinus type

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


Elevated circulating uracil concentration

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


Adrenocortical hyperplasia

A non-malignant growth, or enlargement, of the adrenal glands, specifically the cortex, although the cortex cannot be definitively identified by conventional imaging. Adrenal cortical hyperplasia is defined radiologically as a non-malignant growth, or enlargement, of the adrenal glands.


Anti-ribosome Po antibody positivity

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


Absent radius

Missing radius bone associated with congenital failure of development.


Anti-thyroid antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against one or more components on the thyroid.


Lateral displacement of the femoral head

A developmental anomaly with lateral displacement of the femoral head.


Focal T2 hyperintense thalamic lesion

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


Anomalous coronary artery arising from the opposite sinus

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


Overjet

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


Intestinal lymphedema

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


Non-spinning vertigo

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


CSF mycobacteria

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


Abnormal cerebral venous sinus morphology

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


Spontaneous hematomas

Spontaneous development of hematomas (hematoma) or bruises without significant trauma.


Subluxation of the small joints of the hand

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


Hypoplasia of proximal fibula

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


Abnormality of the pylorus

An abnormality of the pylorus.


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.


carotid artery dissection

Spontaneous or traumatic separation of the layers of the carotid artery wall. It manifests with headache, neck pain, temporary vision loss, and/or ischemic stroke.


Compression-fractured vertebra

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


Low-set, posteriorly rotated ears

Ears that are low-set and posteriorly rotated.


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


Abnormality of the anterior commissure

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


Abnormality of the distal phalanx of the 4th toe


Aplasia/Hypoplasia of the phalanges of the hand

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


Increased circulating galectin-3 level

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


fibromuscular dysplasia

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


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.


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.


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.


vitamin A deficiency

Deficiency of vitamin A due to malnutrition, malabsorption, or dietary lack. It is manifested with reduced night vision, night blindness, and xerophthalmia.


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.


Patchy sclerosis of finger phalanx

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


Wilms tumor

An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix.


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.


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.


bone osteosarcoma

A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs.


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.


hypoplastic left heart syndrome

Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis.


Absent urinary urothione

Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine.


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.


Increased urinary thiosulfate

Increased concentration of thiosulfate(2-) in the urine.


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.


Elevated urine 3,6-epoxydicarboxylic acid level

The concentration of 3,6-epoxydicarboxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal.


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.


Paroxysmal supraventricular tachycardia

An episodic form of supraventricular tachycardia with abrupt onset and termination.


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


Depersonalization

A psychological experience or symptom characterized by a sense of detachment or estrangement from oneself or one's surroundings.


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.


Abnormality of urine bicarbonate level

An abnormal amount of hydrogencarbonate in the urine.


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.


Block vertebrae

Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies).


language disorder

A category of disorders characterized by an impairment in the development of an individual's language capabilities, which is in contrast to his/her non-verbal intellect.


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.


Impaired visuospatial constructive cognition

Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities).


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.


Obliteration of the calvarial diploe

Absence of the spongy bone structure (or tissue) of the internal part of the skull cap (i.e., of the calvarial diploe).


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.


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.


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


Arachnodactyly

Abnormally long and slender fingers ("spider fingers").


Fungal hyphae in sputum

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


Widely patent sagittal suture

The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed.


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.


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.


Abnormality of the neck

An abnormality of the neck.


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.


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.


Reduced awareness of convention

Reduced awareness of expected conventions, which are normal and expected for particular social settings or interactions.


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.


Elevated urinary succinyladenosine level

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


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.


Tongue-like lumbar vertebral deformities

A tongue-like protusion from the anterior aspect of lumbar vertebral bodies.


Decreased urinary guanosine level

The amount of guanosine in the urine, normalized for urine concentration, is below the lower limit of normal. Guanosine is a purine nucleoside in which guanine is attached to ribofuranose via a beta-N(9)-glycosidic bond.


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.


Increased urinary galactosylated oligosaccharide

An abnormal increase in the concentration of galactosylated oligosaccharides in urine.


Abnormal glomerular mesangial cellularity

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


Lipiduria

An increased lipid content in the urine.


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.


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).


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.


Hypertyrosinemia

An increased concentration of tyrosine in the blood.


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.


Increased urine urobilinogen

An elevated concentration of urobilinogen in the urine.


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.


Elevated brain polyol compounds by MRS

An increase in the level of polyol compounds in the brain identified by magnetic resonance spectroscopy (MRS).


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.


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.


congenital alveolar dysplasia

A congenital alveolar dysplasia characterized anatomically by a defective and hypoplastic development of pulmonary alveoli that is commonly associated with atelectasis and can be responsible for atelectasis.


Increased urinary epithelial cell count

An increased number of epithelial cells per high-power field in urinanalysis.


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.


Elevated urine pyrophosphate

An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.


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.


Decreased circulating IgE

An abnormally decreased level of immunoglobulin E (IgE) in blood.


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.


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.


Increased level of ribose in urine

An increase in the level of ribose in the urine.


Ewing sarcoma

A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms.


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.


Urethral atresia, female

Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females.


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.


familial dermatographia

Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. Symptoms usually disappear within 30 minutes. The exact cause of this condition is unknown. Treatment may invovle use of antihistamines if symptoms do not go away on their own.


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.


Elevated urine 2-methylacetoacetic acid level

Amount of 2-methylacetoacetic acid in the urine above upper limit of normal.


CSF pleocytosis

An increased white blood cell count in the cerebrospinal fluid.


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


Lumbar platyspondyly

A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the lumbar spine.


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.


fallopian tube neoplasm

A benign or malignant neoplasm affecting the fallopian tube. Representative examples of benign neoplasms include papilloma, adenofibroma, and leiomyoma. Representative examples of malignant neoplasms include carcinoma, carcinosarcoma, and adenosarcoma.


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.


Disturbed perception with a stimulus

A perceptual experience in which an individual's perception of sensory stimuli is altered or disrupted in some way, resulting in abnormal or distorted sensory perceptions despite the presence of actual external stimuli.


Sclerotic vertebral body

Increase in bone density of the vertebral body.


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.


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.


Gastric varix

Extreme dilation of the submucusoal veins in the stomach.


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.


neurodegenerative disease

A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function.


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).


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.


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.


Kyphoscoliosis

An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.


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.


Macroorchidism

The presence of abnormally large testes.


Nail psoriasis

Psoriatic nail abnormality characterized by the presence of neutrophils in the nail bed epithelium, hyperkeratosis with parakeratosis, presence of exudates on the corneal epithelium, focal hypogranulosis and psoriasiform hyperplasia of the nail bed.


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.


Reduced sperm motility

An abnormal reduction in the mobility of ejaculated sperm.


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.


Hyperosthenuria

An abnormally high urinary specific gravity, i.e., increased concentration of solutes in the urine.


Hypoplasia of the radius

Underdevelopment of the radius.


Irregularly shaped sperm tail

Irregular or changing caliber (diameter) along the tail of the sperm.


Redundant skin

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


Enlarged platelet dense granules

Increased size of platelet dense granules.


Jaw swelling

Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible).


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.


Abnormal sputum

Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin.


Elevated urinary xanthurenic acid level

The amount of xanthurenic acid in the urine, normalized for urine concentration, is above the upper limit of normal.


Intense psychological distress to cues

Intense or prolonged psychological distress occurs when individuals are exposed to internal or external cues that symbolize or resemble an aspect of the traumatic event or events.


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.