Macrovesicular hepatic steatosis

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


Hepatocellular necrosis

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


Periportal fibrosis

description: The presence of fibrosis affecting the interlobular stroma of liver.


Hepatic cysts

description: A cystic lesion located in the liver.


Bile duct proliferation

description: Proliferative changes of the bile ducts.


Decreased liver function

description: Reduced ability of the liver to perform its functions.


Enteroviral hepatitis

description: Inflammation of the liver due to infection with enterovirus.


Micronodular cirrhosis

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


Microvesicular hepatic steatosis

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


X-linked recessive inheritance

description: A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.


name: Abnormality of the musculature of the hand


X-linked dominant inheritance

description: A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.


Mitochondrial inheritance

description: A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy).


Hepatosplenomegaly

description: Simultaneous enlargement of the liver and spleen.


name: Abnormality of the shoulder girdle musculature


Abnormality of the foot musculature

description: An anomaly of the musculature of foot.


name: Abnormality of the musculature of the lower limbs


Abnormal abdomen morphology

description: A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.


name: Abnormality thigh musculature morphology


name: Abnormality of the hip-girdle musculature


name: Abnormality of the musculature of the upper limbs


name: Abnormality of the musculature of the upper arm


1-3 toe syndactyly

description: Syndactyly with fusion of toes one to three.


name: Aplasia/Hypoplasia involving the skeletal musculature

description: Absence or underdevelopment of the musculature.


name: Aplasia/Hypoplasia involving the shoulder musculature

description: Absence or underdevelopment of the muscles of the shoulder.


name: Amyotrophy involving the shoulder musculature


name: Aplasia/Hypoplasia involving the musculature of the upper limbs

description: Absence or underdevelopment of the musculature of the upper limbs.


name: Aplasia/Hypoplasia involving the musculature of the upper arm

description: Absence or underdevelopment of the muscles of the upper arm.


name: Abnormal morphology of the pelvis musculature


name: Aplasia/Hypoplasia of the musculature of the pelvis


Metatarsal osteolysis

description: Osteolysis involving metatarsal bones.


Sclerotic scapulae

description: Increased density of the bony tissue of the scapula.


name: Delayed closure of the anterior fontanelle

description: A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.


Compensatory chin elevation

description: A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement.


Subcutaneous nodule

description: Slightly elevated lesions on or in the skin with a diameter of over 5 mm.


Eye poking

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


Falciform retinal fold

description: An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset.


Carpal osteolysis

description: Osteolysis affecting carpal bones.


Carpal bone hypoplasia

description: Underdevelopment of one or more carpal bones.


Broad finger

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


Failure to thrive

description: Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.


Growth delay

description: A deficiency or slowing down of growth pre- and postnatally.


Small for gestational age

description: Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.


Disproportionate tall stature

description: A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.


Large for gestational age

description: The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age.


Death in infancy

description: Death within the first 24 months of life.


Hemihypertrophy

description: Overgrowth of only one side of the body.


Mild postnatal growth retardation

description: A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms.


Slender build

description: Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones.


Umbilical hernia

description: Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.


Protuberant abdomen

description: A thrusting or bulging out of the abdomen.


Diastasis recti

description: A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).


Ascites

description: Accumulation of fluid in the peritoneal cavity.


Prominent umbilicus

description: Abnormally prominent umbilicus (belly button).


Anteriorly placed anus

description: Anterior malposition of the anus.


Abnormal rib cage morphology

description: A morphological anomaly of the rib cage.


Overgrowth

description: Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.


Abnormal umbilicus morphology

description: An abnormality of the structure or appearance of the umbilicus.


Barrel-shaped chest

description: A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis.


Asymmetry of the thorax

description: Lack of symmetry between the left and right halves of the thorax.


Prenatal movement abnormality

description: An abnormality of fetal movement.


Decreased fetal movement

description: An abnormal reduction in quantity or strength of fetal movements.


Abnormality of the amniotic fluid

description: Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus.


Fetal polyuria

description: Abnormally increased production of urine by the fetus resulting in polyhydramnios.


name: Widely-spaced maxillary central incisors

description: Increased distance between the maxillary central permanent incisor tooth.


Macrodontia

description: Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth.


Abnormality of the integument

description: An abnormality of the integument, which consists of the skin and the superficial fascia.


Primary hypercortisolism

description: Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol.


name: Pigmented micronodular adrenocortical disease


Recurrent skin infections

description: Infections of the skin that happen multiple times.


Redundant skin

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


Rotary nystagmus

description: A form of nystagmus in which the eyeball makes rotary motions around the axis.


Vesicovaginal fistula

description: The presence of a fistula connecting the urinary bladder to the vagina.


Bell-shaped thorax

description: The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter.


Selective tooth agenesis

description: Agenesis specifically affecting one of the classes incisor, premolar, or molar.


Maxillary lateral incisor microdontia

description: Decreased size of the maxillary permanent incisor.


Abnormal hair morphology

description: An abnormality of the hair.


Abnormality of the larynx

description: An abnormality of the larynx.


Vocal cord paresis

description: Decreased strength of the vocal folds.


Vocal cord paralysis

description: A loss of the ability to move the vocal folds.


Hoarse voice

description: Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.


Hypernasal speech

description: A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.


Dysphonia

description: Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause.


High pitched voice

description: An abnormal increase in the pitch (frequency) of the voice.


Premature birth

description: The birth of a baby of less than 37 weeks of gestational age.


Breech presentation

description: A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first.


Abnormal mitral valve morphology

description: Any structural anomaly of the mitral valve.


Abnormal myocardium morphology

description: A structural anomaly of the muscle layer of the heart wall.


Cardiomegaly

description: Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.


Abnormal pulmonary valve morphology

description: Any structural abnormality of the pulmonary valve.


Abnormal aortic valve morphology

description: Any abnormality of the aortic valve.


Tachycardia

description: A rapid heartrate that exceeds the range of the normal resting heartrate for age.


Prolonged QT interval

description: Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).


Truncus arteriosus

description: A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.


Bradycardia

description: A slower than normal heart rate (in adults, slower than 60 beats per minute).


Right ventricular hypertrophy

description: In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.


Abnormal aortic morphology

description: An abnormality of the aorta.


Angina pectoris

description: Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.


Secundum atrial septal defect

description: A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.


Myocardial fibrosis

description: Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts.


Loss of voice

description: A term referring to the inability to speak. It may result from injuries to the vocal cords or may be functional (psychogenic).


Sinus bradycardia

description: Bradycardia related to a mean resting sinus rate of less than 50 beats per minute.


Muscular subvalvular aortic stenosis

description: A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract.


Atrial arrhythmia

description: A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance.


Cardiac shunt

description: Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system.


Right-to-left shunt

description: Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left.


Abnormal pericardium morphology

description: An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery.


Sudden death

description: Rapid and unexpected death.


Myocardial necrosis

description: Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction).


Abnormal tricuspid valve morphology

description: Any structural anomaly of the tricuspid valve.


name: Right ventricular outlet tract obstruction

description: An obstruction to the forward flow of blood in the outflow tract of the right ventricle.


Abnormal right ventricle morphology

description: An abnormality of the right ventricle of the heart.


Right ventricular failure

description: Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly.


Conotruncal defect

description: 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.


Abnormal left ventricle morphology

description: Any structural abnormality of the left ventricle of the heart.


Left ventricular hypertrophy

description: Enlargement or increased size of the heart left ventricle.


Abnormal cardiac ventricle morphology

description: An abnormality of a cardiac ventricle.


Ventricular hypertrophy

description: Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy.


Coronary artery calcification

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


High-output congestive heart failure

description: 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.


Thromboembolic stroke

description: A cerebrovascular accident (stroke) that occurs because of thromboembolism.


Progressive hearing impairment

description: A progressive form of hearing impairment.


Pancreatic cysts

description: A cyst of the pancreas that possess a lining of mucous epithelium.


Abnormal nasopharynx morphology

description: A structural anomaly of the nasopharynx.


Phimosis

description: The male foreskin cannot be fully retracted from the head of the penis.


Nasal congestion

description: Reduced ability to pass air through the nasal cavity often leading to mouth breathing.


Abnormality of the spleen

description: An abnormality of the spleen.


Splenomegaly

description: Abnormal increased size of the spleen.


Asplenia

description: Absence (aplasia) of the spleen.


Accessory spleen

description: An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance.


Polysplenia

description: Polysplenia is a congenital disease manifested by multiple small accessory spleens.


Single ventricle

description: The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle.


Abnormal vestibular function

description: An abnormality of the functioning of the vestibular apparatus.


Vestibular hypofunction

description: A general descriptive term that describes impaired functioning of the vestibular apparatus that leads to manifestations such as dizziness or postural imbalance


name: High-frequency sensorineural hearing impairment

description: A form of sensorineural hearing impairment that affects primarily the higher frequencies.


Abnormal foot morphology

description: An abnormality of the skeleton of foot.


Pes cavus

description: An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).


Hammertoe

description: Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.


Broad foot

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


Toe syndactyly

description: Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".


Achilles tendon contracture

description: A contracture of the Achilles tendon.


Talipes equinovalgus

description: A deformity of foot and ankle in which the foot is bent down and outwards.


Short foot

description: A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).


Bilateral talipes equinovarus

description: Bilateral clubfoot deformity.


Abnormal toe morphology

description: An anomaly of a toe.


Bulbous tips of toes

description: An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous.


Broad metatarsal

description: Increased side-to-side width of a metatarsal bone.


Narrow foot

description: A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length.


Abnormal delivery

description: An abnormality of the birth process.


Premature rupture of membranes

description: Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor.


Fetal ascites

description: Accumulation of fluid in the peritoneal cavity during the fetal period.


Small nail

description: A nail that is diminished in length and width, i.e., underdeveloped nail.


Hyperconvex nail

description: When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity.


Short nail

description: Decreased length of nail.


Hypoplastic toenails

description: Underdevelopment of the toenail.


Absent toenail

description: Congenital absence of the toenail.


Nail pits

description: Small (typically about 1 mm or less in size) depressions on the dorsal nail surface.


Hypoplastic fingernail

description: Underdevelopment of a fingernail.


Onychogryposis

description: Nail that appears thick when viewed on end.


Onycholysis

description: Detachment of the nail from the nail bed.


Ridged nail

description: Longitudinal, linear prominences in the nail plate.


Fragile nails

description: Nails that easily break.


Split nail

description: A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature.


Dystrophic toenail

description: Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate.


Hyperconvex fingernails

description: 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.


Deep-set nails

description: Deeply placed nails.


Thin nail

description: Nail that appears thin when viewed on end.


Absent fingernail

description: Absence of a fingernail.


Leukonychia

description: White discoloration of the nails.


Broad nail

description: Increased width of nail.


Hallux valgus

description: Lateral deviation of the great toe (i.e., in the direction of the little toe).


Weight loss

description: Reduction of total body weight.


Genital tract atresia

description: Congenital occlusion of a tube in the genital tract.


Foot polydactyly

description: A kind of polydactyly characterized by the presence of a supernumerary toe or toes.


Postaxial foot polydactyly

description: Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.


Short toe

description: A toe that appears disproportionately short compared to the foot.


Abnormal metatarsal morphology

description: 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).


Long foot

description: Increased back to front length of the foot.


Camptodactyly of toe

description: Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.


Broad toe

description: Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension.


Metatarsus adductus

description: The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.


Abnormal hallux morphology

description: This term applies for all abnormalities of the big toe, also called hallux.


Overlapping toe

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


Long hallux

description: Increased length of the big toe.


Calcaneovalgus deformity

description: This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus).


Foot oligodactyly

description: A developmental defect resulting in the presence of fewer than the normal number of toes.


Abnormality of the tarsal bones

description: An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone.


Sandal gap

description: A widely spaced gap between the first toe (the great toe) and the second toe.


Podagra

description: Gout affecting the Metatarsophalangeal joint of big toe.


Short distal phalanx of toe

description: 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.


Toe clinodactyly

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


Clinodactyly of the 5th toe

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


Autoamputation of foot

description: The spontaneous detachment of a foot from the body due to long standing pathology.


Deep plantar creases

description: The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot.


name: Acroosteolysis of distal phalanges (feet)


Abnormality of neutrophils

description: A neutrophil abnormality.


Abnormal erythrocyte morphology

description: Any structural abnormality of erythrocytes (red-blood cells).


Abnormal eosinophil morphology

description: An abnormal count or structure of eosinophils.


Abnormal leukocyte morphology

description: An abnormality of leukocytes.


Talipes

description: A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.


Talipes calcaneovalgus

description: Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an "up and out" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg.


Short 2nd toe

description: Underdevelopment (hypoplasia) of the second toe.


Foot osteomyelitis

description: An infection of bone of the foot.


Abnormal bleeding

description: An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.


Reticulocytopenia

description: A reduced number of reticulocytes in the peripheral blood.


Increased red blood cell mass

description: The presence of an increased mass of red blood cells in the circulation.


Increased hematocrit

description: An elevation above the normal ratio of the volume of red blood cells to the total volume of blood.


name: Increased circulating hemoglobin concentration

description: Concentration of hemoglobin in the blood circulation above the upper limit of normal.


Giant platelets

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


name: Neutropenia in presence of anti-neutropil antibodies

description: A type of neutropenia that is observed in the presence of granulocyte-specific antibodies.


Congenital thrombocytopenia

description: Thrombocytopenia with congenital onset.


Thromboembolism

description: The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.


Hypoplastic anemia

description: Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia.


Abnormal granulocyte morphology

description: Any structural abnormality or abnormal count of granulocytes.


Abnormal basophil morphology

description: Any structural abnormality or abnormal count of basophils.


Renal amyloidosis

description: A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856).


Vacuolated lymphocytes

description: The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm.


Reticulocytosis

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


Acanthocytosis

description: Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.


Subcutaneous hemorrhage

description: This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses).


Fever

description: Body temperature elevated above the normal range.


Ketosis

description: Presence of elevated levels of ketone bodies in the body.


Alkalosis

description: Depletion of acid or accumulation base in the body fluids.


Respiratory alkalosis

description: Alkalosis due to excess loss of carbon dioxide from the body.


Recurrent fever

description: Periodic (episodic or recurrent) bouts of fever.


Unexplained fevers

description: Episodes of fever for which no infectious cause can be identified.


Truncal obesity

description: Obesity located preferentially in the trunk of the body as opposed to the extremities.


Polydipsia

description: Excessive thirst manifested by excessive fluid intake.


Palpitations

description: A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.


Abnormal speech discrimination

description: A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss.


Aplasia/Hypoplasia of metatarsal bones

description: Absence or underdevelopment of the metatarsal bones.


Abnormal scalp morphology

description: Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows.


name: Abnormal glomerular mesangium morphology

description: An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries.


Abnormal tubulointerstitial morphology

description: An abnormality that involves the tubules and interstitial tissue of the kidney.


Leukocytosis

description: An abnormal increase in the number of leukocytes in the blood.


name: Decreased platelet glycoprotein IIb-IIIa

description: Decreased cell membrane concentration of glycoprotein IIb-IIIa.


Abnormal thrombosis

description: Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).


Extramedullary hematopoiesis

description: The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms.


Megaloblastic bone marrow

description: Abnormal increased number of megaloblasts in the bone marrow.


Schistocytosis

description: The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood.


name: Reduced lymphocyte surface expression of CD43

description: A reduction in the expression of CD43 on the cell surface of lymphocytes.


Hypoketotic hypoglycemia

description: A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies.


Hyperammonemia

description: An increased concentration of ammonia in the blood.


Recurrent hypoglycemia

description: Recurrent episodes of decreased concentration of glucose in the blood.


Aplasia/Hypoplasia of toe

description: Absence or hypoplasia of toes.


Organic aciduria

description: Excretion of non-amino organic acids in urine.


Ketoacidosis

description: Acidosis resulting from accumulation of ketone bodies.


Hyperchloremic acidosis

description: Acidosis (pH less than 7.35) that develops with an increase in ionic chloride.


Chronic metabolic acidosis

description: Longstanding metabolic acidosis.


Neonatal hypoglycemia

description: Blood glucose concentration below the lower limit of established reference ranges in a newborn.


Abnormal facial shape

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


Short columella

description: Reduced distance from the anterior border of the naris to the subnasale.


Deep philtrum

description: Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border.


Frontal bossing

description: Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.


Potter facies

description: A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose.


Abnormality of the abdominal organs

description: An abnormality of the viscera of the abdomen.


Vomiting

description: Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.


Dysphagia

description: Difficulty in swallowing.


Nausea and vomiting

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


Nausea

description: A sensation of unease in the stomach together with an urge to vomit.


Malabsorption

description: Impaired ability to absorb one or more nutrients from the intestine.


Anal stenosis

description: Abnormal narrowing of the anal opening.


Abdominal pain

description: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.


Abnormal esophagus morphology

description: A structural abnormality of the esophagus.


Poor suck

description: An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.


Abnormal rectum morphology

description: An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus.


Esophageal stricture

description: A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen.


Hypothermia

description: Reduced body temperature due to failed thermoregulation.


Heat intolerance

description: The inability to maintain a comfortable body temperature in warm or hot weather.


Renal cortical atrophy

description: Atrophy of the cortex of the kidney.


name: Curved linear dimple below the lower lip


Abnormality of the glabella

description: An abnormality of the glabella.


Prominent glabella

description: Forward protrusion of the glabella.


Myopathic facies

description: A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness.


Cerebral atrophy

description: Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.


Abnormal cerebral morphology

description: Any structural abnormality of the telencephalon, which is also known as the cerebrum.


Lower limb spasticity

description: Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis


Abnormal pyramidal tract morphology

description: Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts.


Rigidity

description: Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.


Spastic gait

description: Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.


Gait ataxia

description: A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.


Bradykinesia

description: Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).


Bilateral tonic-clonic seizure

description: A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.


Limb ataxia

description: A kind of ataxia that affects movements of the extremities.


name: Abnormality of extrapyramidal motor function

description: A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).


name: Increased neuronal autofluorescent lipopigment

description: Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.


Dysdiadochokinesis

description: A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.


Truncal ataxia

description: Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.


Hypoplasia of the corpus callosum

description: Underdevelopment of the corpus callosum.


Intention tremor

description: A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).


Encephalocele

description: A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.


Abnormality of the respiratory system

description: An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.


name: Abnormality of the upper respiratory tract

description: An abnormality of the upper respiratory tract.


Respiratory insufficiency

description: Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.


Dyspnea

description: Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.


Respiratory distress

description: Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.


Recurrent aspiration pneumonia

description: Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia.


Abnormal lung lobation

description: A developmental defect in the formation of pulmonary lobes.


Abnormal pleura morphology

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


Apnea

description: Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.


Hemoptysis

description: Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.


Spontaneous pneumothorax

description: Pneumothorax occurring without traumatic injury to the chest or lung.


Pulmonary infiltrates

description: A finding indicating the presence of an inflammatory or neoplastic cellular infiltrate in the lung parenchyma.


Abnormal cerebral ventricle morphology

description: Any structural abnormality of the cerebral ventricles.


Ventriculomegaly

description: An increase in size of the ventricular system of the brain.


Cerebral cortical atrophy

description: Atrophy of the cortex of the cerebrum.


Generalized non-motor (absence) seizure

description: A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.


Abnormal upper motor neuron morphology

description: Any structural anomaly that affects the upper motor neuron.


Basal ganglia calcification

description: The presence of calcium deposition affecting one or more structures of the basal ganglia.


Broad-based gait

description: An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.


Ischemic stroke

description: Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured.


Hyperuricemia

description: An abnormally high level of uric acid in the blood.


Hypercalciuria

description: Abnormally high level of calcium in the urine.


name: Increased circulating lactate concentration

description: Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).


Hyperproteinemia

description: An increased concentration of proteins in the blood.


Hyperkalemia

description: An abnormally increased potassium concentration in the blood.


Hyperglycinemia

description: An elevated concentration of glycine in the blood.


Azotemia

description: An increased concentration of nitrogen compounds in the blood.


Heparan sulfate excretion in urine

description: An increased concentration of heparan sulfates in the urine.


Hyperhomocystinemia

description: An increased concentration of homocystine in the blood.


Low posterior hairline

description: Hair on the neck extends more inferiorly than usual.


Nail dysplasia

description: The presence of developmental dysplasia of the nail.


Pterygium of nails

description: Inward advance of skin over the nail plate.


name: Impaired vibration sensation in the lower limbs

description: A decrease in the ability to perceive vibration in the legs.


Scanning speech

description: An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly.


Clonus

description: A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.


Intracranial hemorrhage

description: Hemorrhage occurring within the skull.


Gliosis

description: Gliosis is the focal proliferation of glial cells in the central nervous system.


Postural instability

description: A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.


Postural tremor

description: A type of tremors that is triggered by holding a limb in a fixed position.


Spinal cord compression

description: External mechanical compression of the spinal cord.


Phonophobia

description: An abnormally heightened sensitivity to loud sounds.


Neurofibrillary tangles

description: Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.


Intellectual disability, profound

description: Profound mental retardation is defined as an intelligence quotient (IQ) below 20.


Delayed CNS myelination

description: Delayed myelination in the central nervous system.


Progressive spasticity

description: Spasticity that increases in degree with time.


Pseudobulbar affect

description: Pseudobulbar affect (PBA) is characterized by uncontrolled crying or laughing which may be disproportionate or inappropriate to the social context. Thus, there is a disparity between the patient's emotional expression and his or her emotional experience.


Delayed gross motor development

description: A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.


Dysgenesis of the cerebellar vermis

description: Defective development of the vermis of cerebellum.


Generalized-onset seizure

description: A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.


Dilated fourth ventricle

description: An abnormal dilatation of the fourth cerebral ventricle.


Pseudobulbar signs

description: Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc.


Pleural effusion

description: The presence of an excessive amount of fluid in the pleural cavity.


Recurrent respiratory infections

description: An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.


name: Diffuse reticular or finely nodular infiltrations


Coarse hair

description: Hair shafts are rough in texture.


Sparse scalp hair

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


White forelock

description: A triangular depigmented region of white hairs located in the anterior midline of the scalp.


Fine hair

description: Hair that is fine or thin to the touch.


Sparse axillary hair

description: Reduced number or density of axillary hair.


Premature graying of hair

description: Development of gray hair at a younger than normal age.


Slow-growing hair

description: Hair whose growth is slower than normal.


Silver-gray hair

description: Hypopigmented hair that appears silver-gray.


Facial hypertrichosis

description: Excessive, increased hair growth located in the facial region.


name: Melanin pigment aggregation in hair shafts


Absent axillary hair

description: Absence of axillary hair.


Absent eyebrow

description: Absence of the eyebrow.


Sparse pubic hair

description: Reduced number or density of pubic hair.


White eyebrow

description: White color (lack of pigmentation) of the eyebrow.


White eyelashes

description: White color (lack of pigmentation) of the eyelashes.


Generalized hirsutism

description: Abnormally increased hair growth over much of the entire body.


Sparse body hair

description: Sparseness of the body hair.


Early balding

description: Loss of scalp hair at an earlier than normal age.


Pili canaliculi

description: A characteristic triangular, kidney- or heat-shaped diameter of hair shafts with typical longitudinal canalicular deformation as observable by scanning electron microscopy.


Frontal upsweep of hair

description: Upward and/or sideward growth of anterior hair.


Gastrointestinal hemorrhage

description: Hemorrhage affecting the gastrointestinal tract.


Hepatomegaly

description: Abnormally increased size of the liver.


Abnormal small intestine morphology

description: A structural abnormality of the small intestine.


Abnormal duodenum morphology

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


Hematemesis

description: The vomiting of blood.


Melena

description: The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.


Abnormal large intestine morphology

description: Any abnormality of the large intestine.


Colonic diverticula

description: The presence of multiple diverticula of the colon.


Intermittent diarrhea

description: Repeated episodes of diarrhea separated by periods without diarrhea.


Exaggerated cupid's bow

description: More pronounced paramedian peaks and median notch of the Cupid's bow.


Focal clonic seizure

description: A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.


Abnormality of neuronal migration

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


name: Abnormality of the autonomic nervous system

description: An abnormality of the autonomic nervous system.


Tetraparesis

description: Weakness of all four limbs.


Enlarged cisterna magna

description: Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata.


Gray matter heterotopia

description: Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.


Global brain atrophy

description: Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.


Fair hair

description: A lesser degree of hair pigmentation than would otherwise be expected.


Progressive alopecia

description: Progressive loss of hair.


Poliosis

description: Circumscribed depigmentation of the hair of the head or the eyelashes.


Progressive hypotrichosis

description: Progressively reduced or lacking hair growth.


Brittle hair

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


Akinesia

description: Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.


Athetosis

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


Drooling

description: Habitual flow of saliva out of the mouth.


Clumsiness

description: Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.


name: Degeneration of the lateral corticospinal tracts

description: Deterioration of the tissues of the lateral corticospinal tracts.


Headache

description: Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.


Unsteady gait

description: A shaky or wobbly manner of walking.


Resting tremor

description: A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse.


Drowsiness

description: Abnormal feeling of sleepiness or difficulty staying awake.


Paroxysmal drowsiness

description: A neurological disorder marked by a sudden recurrent uncontrollable compulsion to sleep


Recurrent paroxysmal headache

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


Lack of peer relationships

description: The state of not having relationships with peers outside of school or organized activity appropriate to developmental level. This may be caused by behavioral or physical barriers.


Motor deterioration

description: Loss of previously present motor (i.e., movement) abilities.


Abnormal cerebellar vermis morphology

description: An anomaly of the vermis of cerebellum.


Abnormal caudate nucleus morphology

description: Any structural abnormality of the caudate nucleus.


Cervical cord compression

description: Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness.


Intellectual disability, moderate

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


Action tremor

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


Head tremor

description: An unintentional, oscillating to-and-fro muscle movement affecting head movement.


Focal aware seizure

description: A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile.


Leukoencephalopathy

description: This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.


EEG abnormality

description: Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.


Difficulty walking

description: Reduced ability to walk (ambulate).


Sleep abnormality

description: An abnormal pattern in the quality, quantity, or characteristics of sleep.


Psychomotor deterioration

description: Loss of previously present mental and motor abilities.


Shuffling gait

description: A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground.


Abnormal brainstem morphology

description: An anomaly of the brainstem.


Hypoplasia of the brainstem

description: Underdevelopment of the brainstem.


Abnormal lower motor neuron morphology

description: Any structural anomaly of the lower motor neuron.


Visual hallucination

description: Visual perception in the absence of a visual stimulus.


Normal interictal EEG

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


name: Febrile seizure (within the age range of 3 months to 6 years)

description: A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.


Hypokinesia

description: Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.


Developmental regression

description: Loss of developmental skills, as manifested by loss of developmental milestones.


Hand tremor

description: An unintentional, oscillating to-and-fro muscle movement affecting the hand.


Fasciculations

description: Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.


Paraparesis

description: Weakness or partial paralysis in the lower limbs.


Cavum septum pellucidum

description: If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space.


EEG with polyspike wave complexes

description: The presence of complexes of repetitive spikes and waves in EEG.


Cogwheel rigidity

description: A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched).


Stroke-like episode

description: No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours.


Positive Romberg sign

description: The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception.


Thickened superior cerebellar peduncle

description: Increased width of the superior cerebellar peduncle.


Limb dysmetria

description: A type of dysmetria involving the limbs.


Myokymia

description: Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.


Subependymal cysts

description: Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life.


Abnormal midbrain morphology

description: An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct.


Molar tooth sign on MRI

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


Poor head control

description: Difficulty to maintain correct position of the head while standing or sitting.


Long-tract signs

description: Long-tract signs refer to symptoms that are attributable to the involvement of the long fiber tracts in the spinal cord, which connect the spinal cord to the brain and mediate spinal and motor functions.


Anarthria

description: A defect in the motor ability that enables speech.


Expressive aphasia

description: Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it.


Occipital meningocele

description: A herniation of meninges through a congenital bone defect in the skull in the occipital region.


Astrocytosis

description: Proliferation of astrocytes in the area of a lesion of the central nervous system.


Abnormal motor neuron morphology

description: Any structural anomaly that affects the motor neuron.


Limb dystonia

description: A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.


Abnormal globus pallidus morphology

description: An abnormality of the globus pallidus.


name: Eye of the tiger anomaly of globus pallidus

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


Distal muscle weakness

description: Reduced strength of the musculature of the distal extremities.


name: Cerebellar dentate nucleus calcification

description: Pathological deposition of calcium salts in the dentate nucleus of the cerebellum.


Spastic dysarthria

description: A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality.


Small cerebral cortex

description: Reduced size of the cerebral cortex.


Expressive language delay

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


Primitive reflex

description: The primitive reflexes are a group of behavioral motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant.


Myotonia

description: An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.


Hyperkinetic movements

description: Motor hyperactivity with excessive movement of muscles of the body as a whole.


Increased CSF lactate

description: Increased concentration of lactate in the cerebrospinal fluid.


Spasticity of facial muscles

description: Spasticity of one or more muscles innervated by the facial nerve.


Abnormal corticospinal tract morphology

description: Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord.


Upper motor neuron dysfunction

description: A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs.


Abnormal rapid eye movement sleep

description: Abnormality of REM Sleep are phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tone except for the eye and middle-ear muscles. There are also phases of rapid eye movements.


Impaired vibratory sensation

description: A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.


name: Abnormal cerebral white matter morphology

description: An abnormality of the cerebral white matter.


name: Calcification of the small brain vessels

description: Deposition of calcium salts within small blood vessels of the brain.


Loss of ambulation

description: Inability to walk in a person who previous had the ability to walk.


Diffuse cerebral atrophy

description: Diffuse unlocalised atrophy affecting the cerebrum.


Semilobar holoprosencephaly

description: A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.


Brainstem dysplasia

description: A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord.


Cerebral calcification

description: The presence of calcium deposition within the cerebrum.


Waddling gait

description: Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.


name: Abnormal periventricular white matter morphology

description: A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles.


Hypnagogic hallucination

description: Hypnagogic hallucinations are brief hallucinations that occur as you are falling asleep.


Hypsarrhythmia

description: Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).


Areflexia of lower limbs

description: Inability to elicit tendon reflexes in the lower limbs.


Deficit in nonword repetition

description: Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory.


Granulovacuolar degeneration

description: Electron-dense granules within double membrane-bound cytoplasmic vacuoles.


Axial dystonia

description: A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles.


Abnormal posturing

description: Involuntary flexion or extension of the arms and legs.


Abnormal cortical gyration

description: An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain.


Abnormal cerebral cortex morphology

description: Any structural abnormality of the cerebral cortex.


Inability to walk

description: Incapability to ambulate.


Retrocollis

description: A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture.


name: Patchy demyelination of subcortical white matter

description: Patchy loss of myelin from nerve fibers in the central nervous system.


name: Parkinsonism with favorable response to dopaminergic medication

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


Deficit in phonologic short-term memory

description: Impaired ability to repeat non-word sounds. The test for nonword repetition involves the repetition of nonsensical words of increasing length and complexity and is regarded as a measure of phonological (speech sound) processing and short-term memory


Absent facial hair

description: Absence of facial hair.


Trichodysplasia

description: Developmental dysplasia of the hair.


Highly arched eyebrow

description: Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.


Absent pubic hair

description: Absence of pubic hair.


Hypoplastic nipples

description: Underdevelopment of the nipple.


Low-set nipples

description: Placement of the nipples at a lower than normal location.


Episodic vomiting

description: Paroxysmal, recurrent episodes of vomiting.


Hematochezia

description: The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.


Episodic abdominal pain

description: An intermittent form of abdominal pain.


Abnormal stomach morphology

description: An abnormality of the stomach.


Gastrointestinal dysmotility

description: Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.


Intestinal bleeding

description: Bleeding from the intestines.


Abnormal peritoneum morphology

description: An abnormality of the peritoneum.


Projectile vomiting

description: Vomiting that ejects the gastric contents with great force.


Polyphagia

description: A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.


Pancreatic hypoplasia

description: Hypoplasia of the pancreas.


Abnormality of the vasculature

description: An abnormality of the vasculature.


Head titubation

description: A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction.


Hyporeflexia of lower limbs

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


name: Paresis of extensor muscles of the big toe


Gastrointestinal telangiectasia

description: Telangiectasia affecting the gastrointestinal tract.


Hepatic necrosis

description: The presence of cell death (necrosis) affecting the liver.


Bowel incontinence

description: Involuntary fecal soiling in adults and children who have usually already been toilet trained.


Hepatic periportal necrosis

description: A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein.


Aortic root aneurysm

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


Overriding aorta

description: An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle.


Abnormal venous morphology

description: An anomaly of vein.


Deep venous thrombosis

description: Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected.


name: Venous varicosities of celiac and mesenteric vessels

description: Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein.


name: Right aortic arch with mirror image branching

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


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


Fat malabsorption

description: Abnormality of the absorption of fat from the gastrointestinal tract.


Type IV atherosclerotic lesion

description: In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion.


Dilatation of an abdominal artery

description: Abnormal outpouching or sac-like dilatation in an artery that originates from the abdominal aorta.


Superficial thrombophlebitis

description: Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein).


name: Hypertension associated with pheochromocytoma

description: A type of hypertension associated with pheochromocytoma.


name: Arteriovenous fistulas of celiac and mesenteric vessels


Abnormal pelvic girdle bone morphology

description: An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.


Wormian bones

description: The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.


Aortic dissection

description: Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta.


Bone pain

description: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.


Spondyloepiphyseal dysplasia

description: A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).


Increased susceptibility to fractures

description: 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.


Painless fractures due to injury

description: An increased tendency to fractures following trauma, with fractures occurring without pain.


Coxa valga

description: Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).


Small foramen magnum

description: An abnormal narrowing of the foramen magnum.


Abnormal sella turcica morphology

description: Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull.


J-shaped sella turcica

description: A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull.


Broad skull

description: Increased width of the skull.


Abnormal calvaria morphology

description: Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain.


Thickened calvaria

description: The presence of an abnormally thick calvaria.


Pregnancy history

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


Abnormality of frontal sinus

description: An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone.


Absent frontal sinuses

description: Aplasia of frontal sinus.


Absent paranasal sinuses

description: Aplasia of the paranasal sinuses.


Large sella turcica

description: An abnormal enlargement of the sella turcica.


Platybasia

description: A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base.


Abnormal skull base morphology

description: An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components.


Sclerosis of skull base

description: Increased bone density of the skull base without significant changes in bony contour.


Abnormal parietal bone morphology

description: Any abnormality of the parietal bone of the skull.


Parietal foramina

description: The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide.


Abnormal foramen magnum morphology

description: Any abnormality of the foramen magnum.


Large foramen magnum

description: An abnormal increase in the size of the foramen magnum.


Abnormality of skull ossification

description: An abnormality of the process of ossification of the skull.


High, narrow palate

description: The presence of a high and narrow palate.


Palate telangiectasia

description: The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate.


Prominent median palatal raphe

description: Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate.


Exaggerated median tongue furrow

description: Increased depth of the median tongue furrow.


Downturned corners of mouth

description: A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.


Abnormality of the immune system

description: An abnormality of the immune system.


Lymphadenopathy

description: Enlargment (swelling) of a lymph node.


Recurrent bacterial infections

description: Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.


Recurrent infections

description: Increased susceptibility to infections.


Recurrent abscess formation

description: An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses.


name: Absence of bactericidal oxidative respiratory burst in phagocytes

description: An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity.


Recurrent Aspergillus infections

description: An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections.


name: Recurrent Staphylococcus aureus infections

description: Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection.


Follicular hyperplasia

description: Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers.


Chronic noninfectious lymphadenopathy

description: A chronic form of lymphadenopathy that is not related to infection.


Decreased lymphocyte apoptosis

description: A reduction in the rate of apoptosis in lymphocytes.


Lymph node hypoplasia

description: Underdevelopment of the lymph nodes.


Abnormal lymph node morphology

description: A structural lymph node abnormality.


Hypoplastic frontal sinuses

description: Underdevelopment of frontal sinus.


name: Recurrent Serratia marcescens infections

description: Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection.


Recurrent Klebsiella infections

description: Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection.


Recurrent enteroviral infections

description: Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection.


name: Respiratory insufficiency due to muscle weakness


Delayed skeletal maturation

description: A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.


Kyphoscoliosis

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


Thin bony cortex

description: Abnormal thinning of the cortical region of bones.


Pathologic fracture

description: 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.


Recurrent fractures

description: The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).


Generalized joint hypermobility

description: Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. In individuals with Joint hypermobility at multiple sites (usually five or more), the term generalized joint hypermobility is preferred.


Multiple exostoses

description: Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.


Abnormal cartilage morphology

description: Any morphological abnormality of cartilage.


Stippled chondral calcification

description: Punctate (speckled, dot-like) deposition of calcium of calcium salts in the articular cartilage (cartilage located in joints).


Upper airway obstruction

description: Increased resistance to the passage of air in the upper airway.


name: Recurrent lower respiratory tract infections

description: An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.


Tracheobronchomalacia

description: Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways.


name: Recurrent upper respiratory tract infections

description: An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).


Tachypnea

description: Very rapid breathing.


Hypoventilation

description: A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide).


Reduced vital capacity

description: An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung.


Abnormal pattern of respiration

description: An anomaly of the rhythm or depth of breathing.


Congenital contracture

description: One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth.


Kyphosis

description: Exaggerated anterior convexity of the thoracic vertebral column.


Abnormal limb bone morphology

description: Any abnormality of bones of the arms or legs.


Abnormality of the lower limb

description: An abnormality of the leg.


Abnormality of the knee

description: An abnormality of the knee joint or surrounding structures.


Abnormality of the upper limb

description: An abnormality of the arm.


Abnormal morphology of the radius

description: An abnormality of the radius.


Abnormal femur morphology

description: Any anomaly of the structure of the femur.


Caudal appendage

description: The presence of a tail-like skin appendage located adjacent to the sacrum.


Halberd-shaped pelvis

description: An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle).


Hip dislocation

description: Displacement of the femur from its normal location in the hip joint.


Arthralgia

description: Joint pain.


Calcific stippling

description: An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs).


Cystic angiomatosis of bone

description: Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping.


Aspiration

description: Inspiration of a foreign object into the airway.


Recurrent bronchitis

description: An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.


Urinary bladder sphincter dysfunction

description: Abnormal function of a sphincter of the urinary bladder.


Recurrent fungal infections

description: Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection.


name: Recurrent Burkholderia cepacia infections

description: Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent.


Abnormal T cell morphology

description: An abnormality of T cells.


Abnormal B cell morphology

description: A structural abnormality of B cells.


Impaired memory B cell generation

description: Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge.


name: Decreased specific anti-polysaccharide antibody level

description: The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides.


Absence of lymph node germinal center

description: Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses.


Decreased circulating total IgM

description: An abnormally decreased level of immunoglobulin M (IgM) in blood.


name: Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells

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


Increased proportion of HLA DR+ T cells

description: An elevated proportion of T cells that express human leukocyte antigen (HLA)-DR. HLA-DR is an MHC class II cell surface receptor that presents antigens (peptides of at least 9 amino acids), thereby constituting a ligand for the T-cell receptor. HLA-DR can be upregulated in response to immune stimulation.


Genu valgum

description: The legs angle inward, such that the knees are close together and the ankles far apart.


Meningioma

description: The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.


Hypoplastic iliac wing

description: Underdevelopment of the ilium ala.


Abnormal ilium morphology

description: An abnormality of the ilium, the largest and uppermost bone of the pelvis.


Narrow iliac wing

description: Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).


Flared iliac wing

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


Central apnea

description: Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow.


name: Apneic episodes precipitated by illness, fatigue, stress

description: Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress.


Exertional dyspnea

description: Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest.


Episodic tachypnea

description: Episodes of very rapid breathing.


Nocturnal hypoventilation

description: An abnormal reduction in alveolar ventilation occuring during sleep. This is characterized by a rise in arterial carbon dioxide.


Anisospondyly

description: Abnormally increased variability of the size of the vertebral bodies.


Sudden episodic apnea

description: Recurrent bouts of sudden, severe apnea that may be life-threatening.


Hyperventilation

description: Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide.


Hypocalcemia

description: An abnormally decreased calcium concentration in the blood.


Hyponatremia

description: An abnormally decreased sodium concentration in the blood.


Microscopic hematuria

description: Microscopic hematuria detected by dipstick or microscopic examination of the urine.


Conjugated hyperbilirubinemia

description: Abnormally high level of conjugated bilirubin in the blood.


Generalized aminoaciduria

description: An increased concentration of all types of amino acid in the urine.


name: Elevated circulating hepatic transaminase concentration

description: Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.


Hyperchloriduria

description: An increased concentration of chloride in the urine.


Abnormality of chromosome segregation

description: An abnormality of chromosome segregation.


Hypomagnesemia

description: An abnormally decreased magnesium concentration in the blood.


Hypermagnesemia

description: An abnormally increased magnesium concentration in the blood.


Ketonuria

description: High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state.


name: Decreased circulating ACTH concentration

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


Abnormal cerebrospinal fluid morphology

description: An abnormality of the cerebrospinal fluid (CSF).


Increased CSF protein concentration

description: Increased concentration of protein in the cerebrospinal fluid.


Rheumatoid factor positive

description: The presence in the serum of an autoantibody directed against the Fc portion of IgG.