Conotruncal defect

A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle.


Abnormality of the trapezoid bone

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Abnormality of thumb phalanx

A structural anomaly of one or more phalanges of the thumb.


Linear arrays of macular hyperkeratoses in flexural areas


Increased circulating N-acetylaspartic acid concentration

Concentration of N-acetylaspartic acid in the blood circulation above the upper limit of normal.


Juvenile colonic polyposis

The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands.


megalencephaly

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A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome).


Abnormal liver morphology

Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage.


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

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


A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset.


Follicular bronchiolitis

Follicular bronchiolitis is a polyclonal hyperplasia of bronchiolar associated lymphoid tissue characterized by the is characterized by the development of lymphoid follicles with germinal centers in walls of the small airways.


Bronchopulmonary anastomosis

Abnormal arterial anastomosis (connection) between bronchial and pulmonary arteries.


Increased urinary 3-methylhistidine

Increased concentration of 3-methylhistidine in the urine.


Accessory cranial suture

A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant.


Protruding ear

Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).


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

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


Anti-plasminogen binding peptide antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against plasminogen binding peptide.


Nitrituria

Presence of nitrites in the urine.


left ventricular noncompaction

Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.


Shortening of all middle phalanges of the toes

Abnormal shortening of all middle phalanges of toes.


Seafood allergy

Hypersensitivity in form of an adverse immune reaction against seafood.


Abnormal portal venous system morphology

Any structural anomaly of the portal venous sytem, which comprises all of the veins draining the abdominal part of the digestive tract, including the lower esophagus but excluding the lower anal canal. The portal vein conveys blood from viscera and ramifies like an artery at the liver, ending at the sinusoids. Tributaries of the portal vein, which make up the portal venous system, are the splenic, superior mesenteric, left gastric, right gastric, paraumbilical, and cystic veins.


Congenital intracerebral calcification

The presence of calcium deposition within brain structures that is present already at the time of birth.


Axillary pterygium

Presence of a cutaneous membrane (flap) in the armpit.


rhabdomyoma

A benign mesenchymal tumor arising from skeletal or cardiac muscle.


Increased ratio of VWF propeptide to VWF antigen

An increased VWF propeptide to VWF antigen indicates that deficiency of VWF is not due to impaired synthesis but due to rapid clearance. The VWF propeptide is measured by ELISA.


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

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


Unbalanced atrioventricular canal defect

Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced).


Irregular epiphysis of the distal phalanx of the 3rd toe


osteoarthritis susceptibility 2

Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically.


Renal interstitial globotriaosylceramide inclusions

Accumulation of globotriaosylceramide (GL-3) in kidney tissues, which can be quantified as the number of globotriaosylceramide (GL-3) inclusions/kidney interstitial capillary (KIC).


Postprandial hyperglycemia

An increased concentration of glucose in the blood following a meal.


neurofibromatosis type 2

A tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.


Left unicoronal synostosis

Synostosis affecting only the left coronal suture.


Anterior wedging of T11

An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front).


Knee joint hypermobility

The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees).


Pathologic fracture

A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.


Reduced thyroxin-binding globulin

An abnormally decreased amount of thyroxin-binding globulin (TBG) in blood. TBG is responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream.


Klippel-Feil syndrome

A congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy.


Abnormal platelet granule secretion

Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion.


Postaxial polysyndactyly of foot

Combined syndactyly and polydactyly of the foot on the lateral side (i.e., on the side of the little toe).


Abnormal metaphysis morphology

An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.


Pruritus on foot

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 skin of the foot.


Regional left ventricular wall motion abnormality

An abnormal motion of a segment of the left ventricle during the cardiac cycle.


Tube feeding

Feeding problem necessitating food and nutrient delivery via a tube.


Morbus Koehler

Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis.


Abnormal amyloid beta 42 peptide CSF concentration

Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta42, which is 42 amino acids in length, is the longer form.


Anti-liver cytosolic antigen type 1 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction.


Decreased proportion of CD8-positive T cells

A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells.


Elevated bronchoalveolar lavage fluid lymphocyte proportion

Usually, Lymphoycytes make up less than 15% of all cells found in the bronchoalveloar lavage fluid. This elevated cell proportion can be induced by virus or drugs, or is associated with specific diseases.


Eyelid myoclonus

Marked, involuntary jerking of the eyelids.


Limited ankle dorsiflexion

Reduced ability to move the foot up toward the shin.


Abnormal CSF arginine concentration

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


Fractured distal phalanx of manual digit 5

A partial or complete breakage of the distal phalanx of manual digit 5.


piebaldism

Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.


Anti-mGluR1 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 1 (mGluR1).


Abnormal urine cytology

An anomalous finding in the examination of the urine for cells.


Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio

A decreased amount of the urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) as compared to hydroxylysyl-pyridinoline (HP, or pyridinoline PYD). Both are established biochemical markers of osteoclastic bone resorption and collagen degradation.


Substantia nigra hypointensity on susceptibility-weighted imaging

Hypointence (dark) appearance of the substantia nigra inmagnetic resonance imaging using susceptibility weighted imaging (SWI).


Hand muscle atrophy

Muscular atrophy involving the muscles of the hand.


Amniotic Sheet

A sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion.


Pituitary thyrotropic cell adenoma

A type of pituitary adenoma that produces thyroid stimulating hormone (TSH).


Focal impaired awareness autonomic seizure

A focal autonomic seizure characterised by impaired awareness at some point within the seizure.


Fractured middle phalanx of pes

A partial or complete breakage of the middle phalanx of pes.


Focal aware cognitive seizure with expressive dysphasia/aphasia

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


Splayed superior cerebellar peduncle

Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle.


Jejunitis

Inflammation of the lining of the middle section of the small intestine.


Elevated urinary 7-biopterin level

An abnormally increased amount of 7-biopterin in the urine.


Abnormality of umbilical vein blood flow

A first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein.


Curved middle phalanx of the 4th finger

Curved appearance of the middle phalanx of the 4th (ring) finger.


Cementoma

An odontogenic tumor of the cementum of tooth.


Neonatal electro-clinical non-motor seizure


Ivory epiphyses of the 3rd finger

Sclerosis of the epiphyses of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


Stenosis of the external auditory canal

An abnormal narrowing of the external auditory canal.


EEG with hyperventilation-induced generalized epileptiform discharges

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


Tooth malposition

Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth.


Morbus Kienboeck

Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum.


Dislocated wrist

An injury of the wrist with displacement of any of the eight carpal bones.


Decreased proportion of immature B cells

A reduction in normal proportion of immature B cells (CD19+/ CD21low)in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+).


Imperforate tricuspid valve

A tricuspid valve that has failed to open.


Heparan sulfate excretion in urine

An increased concentration of heparan sulfates in the urine.


Isolated diastolic hypotension

A decrease in diastolic blood pressure (<60 mmHg) without a decrease in systolic blood pressure (> or = to 100 mmHg).


Mild malformation of cortical development

A malformation of cortical development characterized by mild abnormalities of the cortex: excessive heterotopic neurons in Layer 1 or microscopic neuronal clusters or excess of single neurons of normal morphology in deep white matter.


Fatigable weakness of speech muscles

A type of weakness of the muscles involved in speech that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.


Impaired ristocetin cofactor assay activity

Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin to platelet-poor plasma.


Dislocation of the femoral head

Joint dislocation of the femoral head.


Abnormal Schwann cell morphology

Abnormality of schwann cells, glial cells that ensheath axons of neurons in the peripheral nervous system and are necessary for their maintenance and function.


Palmoplantar blistering

A type of blistering that affects the skin of the palms of the hands and the soles of the feet.


Hyporeflexia of lower limbs

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


Recurrent pyelonephritis

Repeated episodes of pyelonephritis.


Elevated tissue non-specific alkaline phosphatase

An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood.


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

An abnormal proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.


Increased proportion autoreactive unresponsive CD21-/low B cells

Increased proportion relative to B-lymphocytes of a subset of B lymphocytes characterized by dim/low levels of CD21, i.e., CD21-/low, in flow cytometry, and additionally enriched in autoreactive clones as determined for instance by clonse showing rheumatoid factor (anti-IgG) reactivity and antibodies recognizing cytoplasmic and to a lesser extent nuclear structures.


Elevated urinary uridine level

Increased levels of urinary uridine, a ribonucleoside composed of a molecule of uracil attached to a ribofuranose moiety via a beta-N1 glycosidic bond.


Flared upper limb metaphysis

The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm.


Abnormal vagina morphology

Any structural abnormality of the vagina.


Multiple palmar creases

The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease).


Hypoplastic colon

Underdevelopment of the colon.


Abnormal mean corpuscular hemoglobin concentration

A deviation from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced.


Abnormal gastrointestinal vascular morphology


right atrial isomerism

A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12.


Anti-HLA-A antibody positivity

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


Empty ovarian follicle

A failure to collect oocytes after an apparently normal controlled ovarian hyperstimulation cycle for in vitro fertilization.


Abnormal glucose-6-phosphate dehydrogenase level in tissue

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


Atrophy/Degeneration involving the spinal cord


Abnormality of permanent molar morphology

An abnormality of morphology of permanent molar.


Abnormal platelet membrane protein expression

Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry.


Tracheobronchmegaly

Marked widening of the trachea and major bronchi that may be predispose to chronic respiratory tract infection.


Absent in utero ossification of vertebral bodies


Late inspiratory crackles

Crackles that appear any time after the beginning of inspiration and last till the end of inspiration.


Aplasia of the middle phalanges of the toes


Abnormal metatarsal morphology

Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes).


Abnormality of the middle phalanx of the 2nd finger


Deep S wave in lead V5

Abnormal depth of the S wave in lead V5 of the electrocardiogram.


Curvilinear pericallosal lipoma

A type of pericallosal lipoma that is thin and curves around the posterior end of the splenium of the corpus callosum.


Abnormal urine sodium concentration

An abnormal concentration of sodium in the urine.


Psychogenic non-epileptic seizure

Psychogenic non-epileptic seizures (PNES) are an important cause of apparently treatment-resistant epilepsy and remain a major diagnostic challenge in epileptology. The two main PNES groups are panic disorder (also occurring as a reaction in people with epilepsy) and dissociative disorder (pseudoseizure), often developing inpatients with no history of epilepsy. The main markers distinguishing PNES from epileptic seizures are (i) the way the patient tells the story (not focusing on the seizure symptoms, avoidance of the word seizure, etc); (ii) that they are prolonged (many minutes); (iii) associated with hyperventilation and eyes closed; and that they present as treatment-resistant epilepsy despite an often normal intellect and brain imaging.


Hypoplasia of the fallopian tube

Developmental hypoplasia of the fallopian tube.


Abnormal number of vertebrae

A deviation from the normal number of vertebrae in the spinal column.


maligant granulosa cell tumor of ovary

An aggressive granulosa cell tumor that arises from the ovary and metastasizes to other anatomic sites.


Coarsened hepatic echotexture

The appearance of the liver in sonographic images is normally uniform. This term applies when there is an irregular or non-uniform appearance of the liver parenchyma in liver sonography.


Triangular epiphysis of the proximal phalanx of the thumb

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


Abnormal metabolic brain imaging by MRS

An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS).


Osteolytic defects of the distal phalanx of the 2nd toe


central neurocytoma

Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those of increased intracranial pressure: headache, nausea and vomiting, drowsiness, vision problems and mental changes. Total removal of the tumor is the therapy of choice. Post-operative prognosis is generally good.


Bullet-shaped phalanges of the 2nd finger

A second finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Elevated circulating sitosterol concentration

An increased concentration of beta-sitosterol in the blood circulation.


Molar incisor malformation

Molar incisor malfomation (MIM) is composed of normal crown with marked cervical constriction, thin, narrow short roots which is a combination of signs that occurs in deciduous and permanent molars.


Absence of CD4-positive, CD25-positive regulatory T cells

Lack of CD4+CD25+ T regulatory cells.


Aplasia/Hypoplasia of the pubic bone

Absence or underdevelopment of the pubic bone.


Triangular shaped proximal phalanx of the 4th finger

Triangular shaped proximal 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.


Abnormal tricuspid valve annulus morphology

Any structural anomaly of the annulus of the tricuspid valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach.


basal encephalocele

Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares.


Target cells

Target cells (codocytes) have a centrally located disk of hemoglobin surrounded by an area of pallor with an outer rim of hemoglobin adjacent to the cell membrane giving the cell the appearance of a target.


Intrascapular pain

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


Anti-desmoglein-1 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-1, a dermal cell adhesion molecule.


Alkaline urine

Urine pH of 8 or higher.


Anterior tibial bowing

An abnormal anterior bending or curvature of the tibia.


Bullet-shaped distal phalanx of the hallux

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


Decreased specific antibody response to protein-conjugated polysaccharide vaccine

A reduced ability to synthesize postvaccination antibodies against protein-conjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination.


Abnormal digit morphology

A morphological abnormality of a digit, i.e., of a finger or toe.


Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration

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


Increased groin pigmentation with raindrop depigmentation


Fractured knee

A partial or complete breakage of the knee.


Impaired renal tubular reabsorption of sodium

Increased fractional excretion (FE) of sodium in the urine. The FE of sodium is the percentage of the sodium filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine sodium, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption.


Increased proportion of central memory CD4-positive, alpha-beta T cells

An abnormally elevated proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.


Increased circulating trypsinogen

An abnormally high concentration of trypsinogen in the blood circulation.


aneurysm of sinus of Valsalva

Sinus of Valsalva aneurysm (SVA) is a rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated.


Fractured middle phalanx of manual digit 5

A partial or complete breakage of the middle phalanx of manual digit 5.


Medullary peritubular capillaritis

Inflammation of the peritubular capillaries in the medulla of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells.


Tongue atrophy

Wasting of the tongue.


Hypothreoninemia

A decreased amount of threonine in the blood.


Renal interstitial eosinophil infiltration

Increased numbers of eosinophils in the interstitial tissues of the kidney.


Egg allergy

Hypersensitivity in form of an adverse immune reaction against eggs.


Decreased circulating copper concentration

A reduced concentration of copper in the blood.


muscular dystrophy

Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities.


Osteolytic defect of the distal phalanx of the thumb

Dissolution or degeneration of bone tissue of the distal phalanx of the thumb.


Perifollicular fibroma

Perifollicular fibroma is a rare cutaneous hamartoma that shows differentiation in the connective tissue sheath of hair follicles. It can occur as a solitary papule or as multiple lesions. Histologically, the lesion consists of a concentric arrangement of cellular fibrous tissue around a normal hair follicle.


Total absence von Willebrand factor multimers

Complete absence of all von Willebrand factor multimers.


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


Increased incisura width

Breadth of the incisura from the anterior to posterior border greater than that observed in the average population.


Neoplasm of the outer ear

A tumor (abnormal growth of tissue) of the outer ear.


Abnormalities of placenta or umbilical cord

An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta).


Arcuate vein medial/intimal coagulative necrosis

A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.


Arcuate artery intima/media necrosis

Death of tissue in the inner or middle layer of the arcuate artery of the kidney.


Generalized-onset motor seizure

A generalized motor seizure is a type of generalized-onset seizure with predominantly motor (involving musculature) signs. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.


Absent epiphysis of the proximal phalanx of the 3rd toe


Pachygyria with 5-10 mm cortical thickness

Pachygyria with a mildly thickend cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age.


thyroglossal duct cyst

A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck.


Intratubular hemoglobin casts

A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. On H&E (red granular), PAS (purple), trichrome (red granular), Hall (yellow brown). Stain positively for Hemoglobin A.


Anomalous muscle bundle of the right ventricle

An accessory (not normally present) muscle bundle in the right ventricle which obstructs the right ventricular outflow tract.


Increased CSF arginine concentration

Abnormally increased levels of arginine in cerebrospinal fluid.


Pure ground-glass pulmonary nodule

Pure ground-glass pulmonary nodules (GGNs) are defined as focal nodular areas of increased lung attenuation through which lung parenchymal structures, such as the pulmonary vessels or bronchial structures, can be observed.


Abnormal arcuate vein morphology

Any structural anomaly of the arcuate vein. The arcuate veins cross traverse along the corticomedullary junction (at the border of the kideny cortex and medulla).


Bronchial breath sound

Bronchial breath sounds contain much higher frequency components than normal breath sounds due to alteration of the low pass filtering function of the alveoli, as occurs in consolidation. It is loud, hollow, and high pitch. Expiratory phase is longer than inspiratory phase with the inspiratory-expiratory ratio (I:E) changing from normal 3:1 to 1:2. There is distinct pause between inspiration and expiration due to absent alveolar phase. It is associated with whispering pectoriloquy.


Peg-shaped maxillary lateral incisors

A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter


Abnormal pulmonary fissure count

A deviation from the normal number of pulmonary fissures.


Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells.


Abnormal erythroid lineage cell morphology

An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes.


Renal interstitial edema

Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density.


Abnormality of thumb epiphysis

Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal.


Thyroid defect in oxidation and organification of iodide


Multiple small medullary renal cysts

The presence of many cysts in the medulla of the kidney.


osteochondrodysplasia

A term referring to disorders characterized by abnormalities in the development of bones and cartilage.


idiopathic camptocormia

Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology.


Renal arteriolar lumen cholesterol emboli

Needle-like or slit-like clefts within the interior space of arterioles of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.


propionic acidemia

Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.


Sparse scalp hair

Decreased number of hairs per unit area of skin of the scalp.


Decreased proportion of CD8-positive, alpha-beta TEMRA T cells

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


EMG: myopathic abnormalities

The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.


Focal impaired awareness motor seizure with dystonia

A focal motor seizure with dystonia characterized by impaired awareness at some point during the seizure.


Abnormal circulating dehydroepiandrosterone concentration

A deviation from the normal concentration of dehydroepiandrosterone in the circulation.


Impaired continence

Partial or total incontinence of bowel or bladder.


Fluctuations in consciousness

Changes in one's level of awareness and responsiveness to their environment.


spastic diplegia

A type of cerebral palsy characterized by spasticity and hypertonia of the lower extremities bilaterally, particularly the legs, hips, and pelvis; this is the most common (70%) form of cerebral palsy.


Myocardial multinucleated giant cells

The presence of extremely large cells with multiple nuclei. The so-called giant cells are thought to be of macrophage origin.


Supernumerary cusp

Additional cusps of a dental crown.


Agenesis of canine

Agenesis of canine tooth.


Curved 3rd toe phalanx

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


Small epiphysis of the middle phalanx of the 2nd finger


Fragmentation of the epiphyses of the 2nd toe


Posterior plagiocephaly

Asymmetry of the posterior part of the skull.


Attached earlobe

Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward.


Pyknotic bone marrow neutrophils

Nuclear lobes of neutrophils in the bone marrow are thickened and condensed, and individual lobes are connected by unusually long chromatin filaments.


Extracranial internal carotid artery dissection

A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall.


Bullet-shaped middle phalanx of the 3rd toe

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


Neonatal electro-clinical autonomic seizure

Neonatal electro-clinical non-motor autonomic seizure is a type of neonatal electro-clinical seizure with predominant features of autonomic alterations, involving cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor, and thermoregulatory functions. May present as apnea.


Abnormal meiosis

Any anomaly of meiosis, a type of cell division that reduces the number of chromosomes in the parent cell by half and produces four gamete cells.


Increased circulating IgM level

An abnormally increased level of immunoglobulin M in blood.


Palmar telangiectasia

The presence of telangiectases on the skin of palm of hand.


Mild expressive language delay

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


Myotonia of the face

Slowed relaxation of muscles in the face.


Triangular epiphyses of the middle phalanges of the hand


Slender proximal phalanx of finger

Reduced diameter of the proximal phalanx of finger.


Abnormal morphology of the cortex of the humerus

Any abnormality affecting the cortex of the humerus.


Anti-SUMO-activating enzyme subunit 1 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 1.


Frey syndrome

An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with parotid neoplasms, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5)


Altman type II sacrococcygeal teratoma

A type of sacrococcygeal teratoma that is predominantly external but has a large intrapelvic component.


Generalized amyotrophy

Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.


Abnormal metacarpophalangeal joint morphology

An anomaly of a metacarpophalangeal joint.


amniotic band syndrome

A group of sporadic congenital anomalies, that occur in association with amniotic bands, involving the limbs, craniofacial regions, spine and trunk with a highly variable clinical spectrum ranging from simple digital band constriction (or amputation) to complex craniofacial, central nervous system and visceral anomalies.


Abnormality of spinal facet joint

An anomaly of the small joints located between and behind adjacent vertebrae.


polyp of ureter

A polyp that involves the ureter.


Anti-H2B antibody positivity

The presence of autoantibodies in the blood circulation that react against histone H2B.


Choking episodes

Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing.


Axillary freckling

The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.


Abnormal iliac wing morphology

An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally.


Achilles tendon contracture

A contracture of the Achilles tendon.


Symphalangism affecting the phalanges of the hand

Fusion of two or more phalangeal bones of the hand.


Thymus hyperplasia

Enlargement of the thymus.


Fragmentation of the epiphyses of the 5th finger

Fragmented appearance of the epiphyses of the 5th finger.


Reduced factor XIII activity

Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot.


Hyperplasia of the premaxilla

An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures.


Broad foot

A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length.


Violet lip discoloration

An alteration of the color of the lip to take on a violet color. This term does not include cyanosis.


Naevus flammeus of the eyelid

Naevus flammeus localised in the skin of the eyelid.


Elevated circulating apolipoprotein A-II concentration

An increased concentration in blood of apolipoprotein A-II, a major component of HDL particles, associated with triglyceride and glucose metabolism.


Curved proximal phalanx of the thumb

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


Arcuate artery intima/media liquefactive necrosis

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


Dilatation of the ductus arteriosus

Ductus arteriosus aneurysm (DAA) is a saccular dilatation of the ductus arteriosus. DAA can be either congenital or acquired (e.g. as a complication of surgical closure of a patent ductus arteriosus). Although the majority of patients with congenital DAA are asymptomatic and have a benign course, severe complications, such as rupture or thromboembolism, can occur. DAA is likely to emerge in the third trimester from the aortic junction of the DA, extending towards its pulmonary end.


Osteolytic defects of the phalanges of the 5th finger

Dissolution or degeneration of bone tissue of the phalanges of the 5th finger.


neoplasm of middle ear

A neoplasm (disease) that involves the middle ear.


Reduced maximal inspiratory pressure

A decrease in the maximum amount of negative pressure a person can generate during an inhalation.


pleural empyema

The presence of pus in the thoracic cavity, between the visceral and parietal pleura.


Violent behavior

Conduct and/or behavior, both verbal and non-verbal, including but not limited to verbal and/or physical aggression, attacks, threats, harassment, intimidation, and other disruptive behaviors in any form or through any medium, that cause or have the potential to cause a reasonable person to fear physical harm from any individual(s) or group(s) towards any person(s) or property. This is commonly defined as a violent act characterized by the use of physical force, anger, or sudden intense activity.


Early chronotype

A tendency towards rising very early in the morning and going to bed early in the evening.


Gallbladder perforation

Rupture of the wall of the gallbladder.


Adversive status epilepticus

A type of focal motor status epilepticus characterized by continuous neck or body rotation and conjugate gaze deviation in a direction contralateral to the responsible epileptic focus. This includes some forms of tonic status epilepticus.


Nail dysplasia

The presence of developmental dysplasia of the nail.


Rib osteolysis

Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to a rib.


Increased susceptibility to fractures

An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.


Oculoclonic status epilepticus

A type of focal motor status epilepticus characterized by repetitive and rapid saccades, in association with epileptic discharges.


Long ear

Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear.


Degenerative liver disease

The presence of degenerative changes of the liver.


Amniotic constriction rings of arms

Amniotic constriction rings affecting the arms.


Abnormal lip pigmentation

Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal.


Peritoneal abscess

The presence of an abscess of the peritoneum.


Abnormality of the epiphyses of the 3rd toe


Hyperpigmented nodule

A nodule of the skin that exhibits an increased amount of pigmentation.


Asymmetrical gluteal crease

The presence of an asymmetrical gluteal crease, the horizontal crease formed by the inferior aspect of the buttocks and the posterior upper leg.


Decreased HDL3a concentration

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


Progressive extrapyramidal movement disorder


Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units).


Multifocal cerebral white matter abnormalities


Meckel diverticulum

A congenital pouch in the distal ileum. It may cause painless rectal bleeding and bowel obstruction.


Ebstein anomaly

Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction.


Abnormality of the hepatic vasculature

An abnormality of the hepatic vasculature.


Pericardial lymphangiectasia

An abnormal dilatation of lymph vessels in the pericardium.


Proximal aortic arch hypoplasia

A type of aortic arch hypoplasia whereby the proximal aortic arch (arch proximal to the origin of the left subclavian artery) has a diameter of less than 60% of the diameter of the ascending aorta.


Severe global developmental delay

A severe delay in the achievement of motor or mental milestones in the domains of development of a child.


Atrophy/Degeneration affecting the brainstem


Hyperphalangy of the 2nd finger

An accessory phalanx of the index (second) finger that is arranged linearly with the other phalanges. Hyperphalangy of the index finger results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. Note that this term refers only to this type of hyperphalangy.


Abnormality of the epiphysis of the proximal phalanx of the hallux

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


Enlarged mesenteric lymph node

Increase in size of one or more mesenteric lymph nodes.


Abnormal renal insterstitial morphology

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


Increased anti-plant based food allergen IgE antibody level

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


protein S deficiency

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


Grade II preterm intraventricular hemorrhage

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


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


Decreased pituitary glycoprotein hormone alpha subunit level

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


dysembryoplastic neuroepithelial tumor

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


Absence of pectoralis minor muscle

Aplasia (congenital absence) of the pectoralis minor.


Socially inappropriate behavior

Behavior that is not in line with social norms.


Epiphyseal stippling of toe phalanges

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


Focal aware sensory seizure with hot-cold sensations

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


tricuspid atresia

Tricuspid atresia is (TA) a rare congenital heart malformation characterized by the congenital agenesis of tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular). TA is associated with normally related or transposed great vessels (TGV), an obligatory interatrial connection that is crucial for survival (patent foramen ovale or atrial septal defect, osteum secondum type), ventricular septal defect (in 90% cases), pulmonary outflow obstruction - pulmonary atresia, stenosis or hypoplasia (usually in TA with normally related vessels but also in TGV), aortic coarctation and/or aortic arch interruption (usually in TA with TGV).


Elevated bronchoalveolar lavage fluid eosinophil proportion

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


Aortic elastic fiber disorganization

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


Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia

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


Apically displaced anterolateral papillary muscle

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


Anti-SEZ6L2 antibody

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


Increased circulating procalcitonin concentration

An elevated concentration of procalcitonin in the blood circulation.


Broad nail

Increased width of nail.


subvalvular aortic stenosis

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


Elevated CSF neopterin level

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


Splenopancreatic fusion

Fusion of the pancreatic tail and spleen.


Increased non-HDL cholesterol concentration

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


Polyclonal elevation of circulating IgG

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


Triangular shaped phalanges of the 2nd toe


Favorable response of weakness to acetylcholine esterase inhibitors

Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor.


Hearing abnormality

An abnormality of the sensory perception of sound.


split foot

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


Hamartoma of tongue

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


Increased sulfur amino acid level in urine

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


Osteolytic defects of the proximal phalanx of the 2nd finger

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


Small flat posterior fossa

An abnormally small and flat configuration of the posterior cranial fossa.


Anti-Ki antibody positivity

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


Focal aware cognitive seizure with forced thinking

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


EEG with parietal focal spike waves

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


Craniofacial asymmetry

Asymmetry of the bones of the skull and the face.


Wide ulnar metaphysis

Increase in width (breadth) of the ulnar metaphysis.


Abnormal blood carbon dioxide level

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


Ankle clonus

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


Decreased serum estriol

A reduction below normal limits of estriol in the circulation.


Agenesis of permanent teeth

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


Acantholysis

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


Neonatal seizure with electrographic correlate

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


Arcuate artery intima/media amyloidosis

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


Partial IgA deficiency

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


Projectile vomiting

Vomiting that ejects the gastric contents with great force.


Bracket epiphysis of the distal phalanx of the 2nd toe


Abnormal tricuspid valve morphology

Any structural anomaly of the tricuspid valve.


Antenatal intracerebral hemorrhage

Cerebral hemorrhage that occurs before birth.


Jejunal arteriovenous malformation

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


Hypoplasia of the calcaneus

Underdevelopment of the heel bone.


Shortened sleep cycle

A tendency to sleep less hours than usual while feeling well rested.


Increased circulating renin level

An increased level of renin in the blood.


Aplasia of the upper vagina

A failure to develop of the upper vagina.


Salpingitis

An inflammation of the fallopian tube.


Limitation of knee mobility

An abnormal limitation of knee joint mobility.


Supraglottic hemangioma

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


Abnormal preputium morphology

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


Aplasia of the proximal phalanx of the 3rd finger

Absence of the proximal phalanx of the 3rd finger.


aortic atherosclerosis

A atherosclerosis that involves the aorta.


Toe dactylitis

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


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


Fused lips

Lack of separation of the upper and lower lips.


Abnormal morphology of the olfactory bulb

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


Bullet-shaped 4th toe phalanx

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


Modic type I vertebral endplate changes

An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1-weighted sequences and high signal on T2-weighted sequences. Modic type I changes are thought to represent bone marrow edema and inflammation.


congenital laryngomalacia

Increased collapsibility of the larynx.


Anti-Septin-5 antibody

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


Delayed ability to crawl

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


Perivascular fibrosis

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


Impaired histidine renal tubular absorption


Intra-epidermal blistering

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


Spinal rigidity

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


Beau's lines

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


Normal density transverse bands in metaphyses of the upper limbs


Abnormal neck physiology

Any functional anomaly of the neck region.


Cholesterol crystalluria

The presence of cholesterol crystals in the urine.


Aplasia/Hypoplasia of the cochlea

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


Scapuloperoneal amyotrophy

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


Abnormal pulmonary valve cusp morphology

Any structural anomaly of the pulmonary valve leaflets.


adnexal spiradenoma/cylindroma of a sweat gland

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


Absent fetal nasal bone

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


Osteolytic defects of the middle phalanx of the 3rd toe


Anti-phosphatidyl serine antibody positivity

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


chronic mucocutaneous candidiasis

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


Proximal/middle symphalangism of 4th finger

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


Curved distal toe phalanx

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


Absent epiphysis of the middle phalanx of the 2nd finger


Abnormality of the chin

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


Abnormal helix morphology

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


Focal necrosis of right ventricular muscle cells


Anti-proteinase 3 antibody positivity

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


Abnormal tissue metabolite concentration

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


Shawl sign

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


Leukocyte cylindruria

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


Absent cavum septum pellucidum

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


Abdominal mass

An abnormal enlargement or swelling in the abdomen.


Abnormal CSF alanine concentration

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


Abnormal arcuate artery intima/media morphology

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


Extractable nuclear antigen positivity

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


Single coronary artery origin

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


EEG with central epileptiform discharges

Focal epileptiform EEG discharges recorded in the central region.


Sleep-wake inversion

A reversal of sleeping habits with a tendency to sleep during the day and to be awake at night.


Symphalangism affecting the distal phalanx of the hallux


Abnormal 2nd finger morphology

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


Hyperconvex fingernails

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


Increased circulating androstenedione concentration

Increased concentration of androstenedione in the blood circulation.


Hypoplastic female external genitalia

Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris).


Reduced plasma cell count

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


Elevated plasma citrulline

An increased concentration of citrulline in the blood.


Refractory sideroblastic anemia

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


Spleen hamartoma

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


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


Abnormal form of the vertebral bodies

Abnormal morphology of vertebral body.


Elevated urine suberic acid level

An increased in the level of suberic acid in the urine above the normal range. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane.


Aplasia/Hypoplasia of the phalanges of the 3rd toe


Symphalangism of middle phalanx of 3rd finger

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


Abnormal sensory nerve conduction velocity


Increased bone density with cystic changes


Coffee ground vomitus

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


Aplasia/Hypoplasia of the nasal bone

Absence or underdevelopment of the nasal bone.


Partial duplication of the distal phalanx of the 3rd finger

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


Uterine adenofibroma

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


Elevated circulating S-adenosyl-L-homocysteine concentration

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


Decreased forced expiratory flow 25-75%

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


Agenesis of primary maxillary central incisor

Agenesis of upper central primary incisor.


Abnormal thyroid morphology

A structural abnormality of the thyroid gland.


Osteolytic defects of the distal phalanges of the hand


Diffuse telangiectasia

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


Abnormal fifth toe morphology

An anomaly of the little toe.


Glomerular extracapillary fibrin

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


Bifid sacrum

Presence of a bifid sacral bone.


Grade II vesicoureteral reflux

Vesicoureteral reflux into a non-dilated pyelocalyceal system.


Duodenal aganglionosis

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


epidermal appendage tumor

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


Cochlear degeneration

Deterioration or loss of the tissues of the cochlea.


Abnormal circulating alpha-fetoprotein concentration

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


Abnormality of the glenoid fossa

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


Broad metacarpal epiphyses

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


Curved linear dimple below the lower lip


Abnormality of the distal phalanx of the 5th finger

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


Blake's pouch cyst

The presence of an upwardly displaced normal cerebellar vermis, normal appearance of the fastigium, tentorium and size of the cisterna magna.


Abnormal forearm morphology

An abnormality of the lower arm.


Decreased CSF biopterin level

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


Increased esterified to free carnitine ratio

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


Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole

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


Fractured distal phalanx of manus

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


Increased urine proteinogenic amino acid derivative level

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


Benign neoplasm of the central nervous system

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


Focal sensory seizure with gustatory features

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


Bipedal edema

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


Contracture of the distal interphalangeal joint of the 3rd toe

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


Hypoplastic fingernail

Underdevelopment of a fingernail.


tympanosclerosis

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


hyperaldosteronism

Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia.


Squared iliac bones

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


Visceromegaly

Abnormal increased size of the viscera of the abdomen.


Abnormal circulating non-proteinogenic amino acid concentration

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


Fractured distal epiphysis of radius

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


Broad skull

Increased width of the skull.


Abnormality of nail color

An anomaly of the color of the nail.


Abnormal bronchial artery morphology

Any structural abnormality of a bronchial artery.


Elevated circulating apolipoprotein B concentration

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


Abnormality of the calf

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


Episodic upper airway obstruction

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


Patchy sclerosis of the proximal phalanx of the 3rd finger

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


Abnormality of the vestibulocochlear nerve

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


Patchy sclerosis of the middle phalanx of the 5th finger

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


tarsal coalition

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


Thalamic hypometabolism in FDG PET

Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the thalamus as measured by positron emission tomography (PET) brain scan.


Abnormal humeral diaphysis morphology

An anomaly of the humeral diaphysis.


Clicking tinnitus

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


Abnormal erythrocyte metabolite concentration

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


Urethral diverticulum

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


Sclerosis of proximal toe phalanx

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


Fetal cerebellar hemisphere hemorrhage

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


Abnormal umbilical artery doppler waveform during pregnancy

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


ainhum

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


Neonatal unilateral epileptic spasm

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


Chronic intestinal candidiasis

Persistent overgrowth of Candida albicans in the gastrointestinal tract.


Abnormal circulating short-chain fatty-acid concentration

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


Adrenocorticotropic hormone excess

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


severe combined immunodeficiency

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


Abnormal serum insulin-like growth factor 1 level

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


Isometric tremor

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


Benzodiazepine addiction

Addiction to a benzodiazepine.


Interlobular vein medial atrophy

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


Abnormal glomerular capillary morphology

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


High-output congestive heart failure

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


Lumbar kyphosis

Over curvature of the lumbar region.


Axillary and groin hyperpigmentation and hypopigmentation


lymphangiectasis

Dilatation of the lymphatic vessels.


Renal interstitial xanthogranulomatous inflammation

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


subcortical band heterotopia

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


Partial beta-EEG

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


EEG with centrotemporal focal spike waves

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


Abnormal caudate nucleus morphology

Any structural abnormality of the caudate nucleus.


Non-midline cleft lip

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


Ridged fingernail

Longitudinal, linear prominences in the fingernail plate.


Hypoplasia of the ovary

Developmental hypoplasia of the ovary.


Rhizomelia

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


Modic type II vertebral endplate changes

An abnormal magnetic resonance tomography signal from a vertebral endplate with a high signal on T1-weighted sequences and high- or isointense signal on T2 sequences. Modic type II signals are thought to indicate fatty replacement in the bone marrow.


Lhermitte-Duclos disease

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


Increased urinary cortisol level

Abnormally increased concentration of cortisol in the urine.


Shoulder dystocia

Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex.


Overfriendliness

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


Short distal phalanx of toe

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


Abnormal factor VIII activity

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


Progressive pulmonary function impairment


mesocardia

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


leukodystrophy

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


Fractured proximal phalanx of manus

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


Reduced hemoglobin A

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


Decreased circulating corticosterone level

An abnormally reduced concentration of corticosterone in the blood.


Increased scrotal rugation

Increased number or density of the folded ridges (wrinkles) of skin of the scrotum.


Decreased vigilance

A reduction in the ability to maintain sustained attention characterized by reduced alertness.


Increased circulating IgG1 level

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


Abnormal circulating ornithine concentration

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


Abnormality of skin adnexa morphology

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


Procedural memory loss

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


Reduced epidermal plectin protein expression


inborn mitochondrial myopathy

Myopathy caused by mitochondrial abnormalities.


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


Posterior pituitary dysgenesis

Abnormal development of the neurohypophysis during embryonic growth and development.


Salmonella osteomyelitis

Osteomyelitis caused by infection with the bacteria, salmonella.


Arcuate artery endotheliosis

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


Elevated circulating propionylcarnitine concentration

Increased concentration of propionylcarnitine in the blood circulation.


Circumoral cyanosis

Persistent blue color of the skin that surrounds the mouth.


Proximal scleroderma

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


Duplication of the middle phalanx of the 2nd finger

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


Contracture of the interphalangeal joint of the hallux

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


Left ventricular systolic dysfunction

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


Decrease in high molecular weight von Willebrand factor Multimers

A decrease in high molecular weight von Willebrand factor multimers.


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

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


Elevated urinary phenylpyruvic acid level

An abnormally increased amount of phenylpyruvic acid in the urine.


Ballooning hepatocyte degeneration

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


Abnormal macrophage count

An anomaly in the number of macrophages.


Elevated proportion of CD4+ effector memory T cells

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


Fractured distal tarsal bone

A partial or complete breakage of the distal tarsal bone.


Decreased cirrculating antimullerian hormone circulation

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


Abnormal blistering of the skin

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


Decreased CSF tyrosine concentration

Abnormally decreased levels of tyrosine in cerebrospinal fluid.


Focal cortical dysplasia type Ib

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


Intermittent generalized erythematous papular rash


1-2 finger syndactyly

Syndactyly with fusion of fingers one and two.


Easily subluxated first metacarpophalangeal joints


Absent epiphysis of the middle phalanx of the 3rd toe


Focal aware autonomic seizure with piloerection

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


Triangular epiphysis of the middle phalanx of the 5th toe


osteoarthritis, knee

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


Supernumerary testes

The presence of more than two testes.


medulloepithelioma

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


Decreased proportion of CD4-positive T cells

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


Anti-La/SS-B antibody positivity

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


Fatty replacement of ventricular myocardial tissue

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


Fractured upper limb segment

A partial or complete breakage of the upper limb segment.


Aplasia of the distal phalanx of the 5th finger

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


Abnormal morphology of myocardial trabeculae

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


Small epiphysis of the middle phalanx of the 4th toe


Cuboidal metacarpal

Severely shortened metacarpal with a cuboidal appearance.


Decreased HDL2a concentration

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


Pseudoepiphysis of the middle phalanx of the 5th finger

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


Abnormal Sharpey fiber morphology

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


Interictal EEG abnormality

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


Elevated cholesterol ester level

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


Monoclonal elevation of circulating IgA

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


Anti-GW182 antibody positivity

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


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

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


Serrated incisors

Incisor teeth with irregular edges said to resemble a saw.


Focal impaired awareness autonomic seizure with erection

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


Vestibular saccular degeneration

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


Abnormal glomerular endothelial cell morphology

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


Thyroid agenesis

The congenital absence of the thyroid gland.


Focal aware cognitive seizure with receptive dysphasia/aphasia

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


Short tibia

Underdevelopment (reduced size) of the tibia.


Axial hypotonia

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


White cerebellum sign

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


Low alkaline phosphatase of renal origin

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


Upper limb postural tremor

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


Decreased circulating A-type natriuretic peptide concentration

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


Neoplasm of striated muscle

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


Oral melanotic macule

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


Myocardial granulomatous infiltrates

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


Increased level of D-threitol in plasma

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


Progressive forearm bowing

Progressive bending or abnormal curvature of the forearm skeleton.


Abnormal sternum morphology

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


Bracket epiphyses of the 3rd finger

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


cerebral cavernous malformation 1

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


Localized periodontitis

A localized form of periodontitis.


Absent distal phalanx of the 3rd toe

Developmental aplasia of the distal phalanx of third toe.


Focal cognitive seizure with forced thinking

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


Abnormal basophil morphology

Any structural abnormality or abnormal count of basophils.


Lymphocytic infiltration of the colorectal mucosa

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


Decreased platelet alpha-2A-adrenergic receptor

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


Short hard palate

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


Median pseudocleft lip

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


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


Hypoplastic labia majora

Undergrowth of the outer labia.


Urethrovesical occlusion

Blockage of the flow of urine from the bladder into the urethra.


Cerebral cortical microinfarct

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


Bracket epiphysis of the middle phalanx of the 5th finger

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


Elongated radius

Increased length of the radius.


Focal substantia nigra T2 hyperintensity

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


thyroid hemiagenesis

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


Uhl anomaly

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


Acetabular erosions

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


Abnormal lymphocyte physiology

Any anomaly of lymphocyte function.


Reduced prothrombin antigen

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


Longitudinal vaginal septum

The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication.


Infancy onset short-trunk short stature

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


Triangular epiphyses of the proximal phalanges of the hand


Ureteral dysgenesis

A developmental anomaly of the ureter.


Abnormal urine alpha-ketoglutarate concentration

A deviation from normal of the concentration of 2-oxoglutaric acid in the urine.