name: Elevated circulating thyroid-stimulating hormone concentration

description: Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation.


Abnormality of thyroid physiology

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

description: An abnormal functionality of the thyroid gland.


name: Decreased activity of the pyruvate dehydrogenase complex


name: Leydig cell insensitivity to gonadotropin


Aldehyde oxidase deficiency

description: A reduction in aldehyde oxidase level.


Ventral hernia

description: Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall.


Distal sensory impairment

description: An abnormal reduction in sensation in the distal portions of the extremities.


Hemivertebrae

description: Absence of one half of the vertebral body.


Lumbar hyperlordosis

description: An abnormal accentuation of the inward curvature of the spine in the lumbar region.


Thoracic kyphosis

description: Over curvature of the thoracic region, leading to a round back or if sever to a hump.


Intervertebral space narrowing

description: Decreased height of the intervertebral disk.


Cervical kyphosis

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


Vertebral fusion

description: A developmental defect leading to the union of two adjacent vertebrae.


Fused cervical vertebrae

description: A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another.


Partial absence of cerebellar vermis

description: Congenital absence of a part of the vermis of cerebellum.


Granulomatosis

description: A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity.


Immune dysregulation

description: Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications.


Impaired Ig class switch recombination

description: An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE.


name: Abnormal delayed hypersensitivity skin test

description: Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter.


Cutaneous anergy

description: Inability to react to a delayed hypersensitivity skin test.


Cubitus valgus

description: Abnormal positioning in which the elbows are turned out.


Genu varum

description: A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.


name: Absent microvilli on the surface of peripheral blood lymphocytes

description: Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes.


Reduced delayed hypersensitivity

description: Decreased ability to react to a delayed hypersensitivity skin test.


Abnormal forearm morphology

description: An abnormality of the lower arm.


name: Aplasia/Hypoplasia involving the central nervous system

description: Absence or underdevelopment of tissue in the central nervous system.


Bowing of the legs

description: A bending or abnormal curvature affecting a long bone of the leg.


Femoral bowing

description: Bowing (abnormal curvature) of the femur.


Abnormality of the calf

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


Tibial bowing

description: A bending or abnormal curvature of the tibia.


Micromelia

description: The presence of abnormally small extremities.


Hypoplasia of the radius

description: Underdevelopment of the radius.


Radial bowing

description: A bending or abnormal curvature of the radius.


Elbow flexion contracture

description: An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.


Fibular aplasia

description: Absence of the fibula.


Abnormal fibula morphology

description: An anomaly of the calf bone (fibula), one of the two bones of the calf.


Abnormal tibia morphology

description: Abnormality of the tibia (shinbone).


Patellar dislocation

description: The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.


Prolonged bleeding time

description: Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.


Abnormality of the musculature

description: Abnormality originating in one or more muscles, i.e., of the set of muscles of body.


Bulging epiphyses

description: A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant).


Flared metaphysis

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


Metaphyseal widening

description: Abnormal widening of the metaphyseal regions of long bones.


Abnormality of the wrist

description: Abnormality of the wrist, the structure connecting the hand and the forearm.


Metaphyseal cupping

description: Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance.


name: Bowing of limbs due to multiple fractures

description: Curvature of the shafts of the long bones due to multiple fractures.


Metaphyseal irregularity

description: Irregularity of the normally smooth surface of the metaphyses.


Short long bone

description: One or more abnormally short long bone.


Mesomelia

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


Abnormality of the ankle

description: An anomaly of the joint that connects the foot with the leg.


Ulnar bowing

description: Bending of the diaphysis (shaft) of the ulna.


Diaphyseal sclerosis

description: An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Enlarged joints

description: Increase in size of one or more joints.


Fibular hypoplasia

description: Underdevelopment of the fibula.


Elbow dislocation

description: Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet.


Abnormal shoulder morphology

description: An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula.


Shoulder flexion contracture

description: Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.


Abnormal patella morphology

description: Abnormality of the patella (knee cap).


Radial head subluxation

description: Partial dislocation of the head of the radius.


Enlarged metaphyses

description: Abnormal increase in size of one or more metaphyses.


Abnormality of the humerus

description: An abnormality of the humerus (i.e., upper arm bone).


Patellar hypoplasia

description: Underdevelopment of the patella.


Limited knee extension

description: Reduced ability to extend (straighten) the knee joint.


Flattened epiphysis

description: Abnormal flatness (decreased height) of epiphyses.


Hypoalbuminemia

description: Reduction in the concentration of albumin in the blood.


Hypoproteinemia

description: A decreased concentration of protein in the blood.


Glycosuria

description: An increased concentration of glucose in the urine.


name: Defective DNA repair after ultraviolet radiation damage


Hydroxyprolinuria

description: An increased concentration of 4-hydroxy-L-proline in the urine.


Increased urinary potassium

description: An increased concentration of potassium(1+) in the urine.


Dislocated radial head

description: A dislocation of the head of the radius from its socket in the elbow joint.


Fractures of the long bones

description: An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna).


Long fibula

description: Disproportionately long fibulae.


Acromesomelia

description: Small hands and feet.


name: Hypoplasia of the capital femoral epiphysis

description: Underdevelopment of the proximal epiphysis of the femur.


Trophic limb changes

description: Trophic changes occurring in a limb.


Limited hip extension

description: Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward.


Fibular overgrowth

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


Slender long bone

description: Reduced diameter of a long bone.


Increased carrying angle

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


Abnormal cortical bone morphology

description: An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones.


Protuberances at ends of long bones

description: The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones.


Subperiosteal bone resorption

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


name: Abnormal circulating cholesterol concentration

description: Any deviation from the normal concentration of cholesterol in the blood circulation.


Hyperphosphaturia

description: An increased excretion of phosphates in the urine.


Abnormality of urine homeostasis

description: An abnormality of the composition of urine or the levels of its components.


Abnormal blood ion concentration

description: Abnormality of the homeostasis (concentration) of a monoatomic ion.


name: Abnormal circulating amino acid concentration

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


Hypochloremia

description: An abnormally decreased chloride concentration in the blood.


Abnormal EKG

description: Abnormal rhythm of the heart.


name: Abnormal circulating hormone concentration

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


name: Abnormal circulating lipid concentration

description: Any deviation from the normal concentration of a lipid in the blood circulation.


Limb joint contracture

description: A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs.


Hypercholesterolemia

description: An increased concentration of cholesterol in the blood.


Low-molecular-weight proteinuria

description: Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD).


Hypocalciuria

description: An abnormally decreased calcium concentration in the urine.


Abnormal peripheral myelination

description: An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense.


name: Abnormality of the spinocerebellar tracts

description: An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract.


name: Abnormality of peripheral nerve conduction

description: An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS).


Prolinuria

description: Level of proline in the urine anove the upper limit of normal.


Increased blood urea nitrogen

description: An increased amount of nitrogen in the form of urea in the blood.


Panhypogammaglobulinemia

description: A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes.


name: T-wave inversion in the right precordial leads


Increased serum serotonin

description: A increased concentration of serotonin in the blood.


name: Decreased circulating adenosylcobalamin concentration

description: The concentration of adenosylcobalam in the blood circulation is below the lower limit of normal. Adenosylcobalamin is one of the active forms of vitamin B12.


Hypocholesterolemia

description: An decreased concentration of cholesterol in the blood.


Hyperuricosuria

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


Increased circulating ACTH level

description: An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.


name: Elevated circulating alkaline phosphatase concentration

description: Abnormally increased serum levels of alkaline phosphatase activity.


Hyposthenuria

description: An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine.


name: Abnormal isoelectric focusing of serum transferrin

description: Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded.


4-Hydroxyphenylpyruvic aciduria

description: Increased relative concentration of 4-hydroxyphenylpyruvic acid in the urine.


name: Elevated urinary delta-aminolevulinic acid

description: An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine.


name: Hypothalamic gonadotropin-releasing hormone deficiency


name: Elevated circulating parathyroid hormone level

description: An abnormal increased concentration of parathyroid hormone.


Increased urinary taurine

description: Increased concentration of taurine in the urine.


Carnosinuria

description: An increased concentration of carnosine in the urine.


Dibasicaminoaciduria

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


Abnormal acetabulum morphology

description: An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint.


Abnormal pubic bone morphology

description: An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (pubis, ilium, ischium) of the hip bone.


Hypoplastic pubic bone

description: Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone.


Abnormal ischium morphology

description: An anomaly of the ischium, which forms the lower and back part of the hip bone.


Hypoplastic ischia

description: Underdevelopment of the ischium, which forms the lower and back part of the hip bone.


Squared iliac bones

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


Flat acetabular roof

description: Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.


Wide pubic symphysis

description: Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones.


Decreased hip abduction

description: Reduced ability to move the femur outward to the side.


Short greater sciatic notch

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


Breast hypoplasia

description: Underdevelopment of the breast.


Long nose

description: Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base.


Cleft ala nasi

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


Short nasal bridge

description: Decreased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose.


Short nose

description: Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.


Ragged-red muscle fibers

description: An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.


Rhabdomyolysis

description: Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.


Impaired oxidative burst

description: In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria.


name: Intracellular accumulation of autofluorescent lipopigment storage material

description: The intracellular accumulation of autofluorescent storage material.


name: Curvilinear intracellular accumulation of autofluorescent lipopigment storage material

description: An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern.


Arterial calcification

description: Pathological deposition of calcium salts in one or more arteries.


name: Fingerprint intracellular accumulation of autofluorescent lipopigment storage material

description: An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern.


Decreased pyruvate carboxylase activity

description: A decreased rate of pyruvate carboxylase activity.


name: Decreased methylmalonyl-CoA mutase activity

description: An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity.


name: Deficient excision of UV-induced pyrimidine dimers in DNA


Dicarboxylic aciduria

description: An increased concentration of dicarboxylic acid in the urine.


Generalized amyloid deposition

description: A diffuse form of amyloidosis.


Hyperglutaminemia

description: An increased concentration of glutamine in the blood.


Ethylmalonic aciduria

description: The concentration of ethylmalonic acid in the urine, normalized for urine concentration, is above the upper limit of normal.


Abnormality of chromosome stability

description: A type of chromosomal aberration characterized by reduced resistance of chromosomes to change or deterioration.


name: Chromosomal breakage induced by crosslinking agents

description: Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C.


name: Decreased circulating methylcobalamin concentration

description: The concentration of methylcobalamin in the blood circulation is below the lower limit of normal. Methylcobalamin is a form of vitamin B12.


name: Increased cellular sensitivity to UV light


name: Rectilinear intracellular accumulation of autofluorescent lipopigment storage material

description: An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern.


Hypernatremia

description: An abnormally increased sodium concentration in the blood.


Hypertyrosinemia

description: An increased concentration of tyrosine in the blood.


name: Decreased circulating carnitine concentration

description: Concentration of carnitine in the blood circulation below the lower limit of normal.


Increased circulating IgG level

description: An abnormally increased level of immunoglobulin G in blood.


name: Increased phosphoribosylpyrophosphate synthetase level

description: Abnormally elevated level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.


External genital hypoplasia

description: Underdevelopment of part or all of the external reproductive organs.


Penile hypospadias

description: Location of the urethral opening on the inferior aspect of the penis.


Prominent scrotal raphe

description: Increased size of the ridge of tissue that extends along the midline of the scrotum.


name: Gonadal tissue inappropriate for external genitalia or chromosomal sex


Abnormality of DNA repair

description: An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage.


name: Elevated circulating creatinine concentration

description: An increased amount of creatinine in the blood.


Increased circulating IgA level

description: An abnormally increased level of immunoglobulin A in blood.


Anti-smooth muscle antibody positivity

description: The presence in serum of antibodies against smooth muscle.


Neonatal hyperbilirubinemia

description: A type of hyperbilirubinemia with neonatal onset.


name: Reduced orotidine 5-prime phosphate decarboxylase level

description: An abnormal decrease in orotidine 5'-phosphate decarboxylase level.


Argininuria

description: A increased concentration of arginine in the urine.


Abdominal distention

description: Distention of the abdomen.


Visceromegaly

description: Abnormal increased size of the viscera of the abdomen.


Abnormal hip bone morphology

description: An abnormality of the hip bone.


Hip contracture

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


Hypoplastic acetabulae

description: Underdeveloped acetabulae.


Narrow pelvis bone

description: Reduced side to side width of the pelvis.


Pelvic bone exostoses

description: A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage.


Square pelvis bone

description: An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure.


Coxa magna

description: Widening of the femoral head and neck.


name: Increased circulating ferritin concentration

description: Increased concentration of ferritin in the blood circulation.


Low alkaline phosphatase

description: Abnormally reduced serum levels of alkaline phosphatase.


Cystathioninemia

description: An increased concentration of cystathionine in the blood.


Abnormality of mitochondrial metabolism

description: A functional anomaly of mitochondria.


name: Mitochondrial propionyl-CoA carboxylase defect


Decreased serum leptin

description: A decreased concentration of leptin in the blood.


Hyperthreoninuria

description: An increased concentration of threonine in the urine.


Hyperlysinuria

description: An increased concentration of lysine in the urine.


Ovoid vertebral bodies

description: When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval.


Irregular vertebral endplates

description: An irregular surface of the vertebral end plates, which are normally relatively smooth.


Block vertebrae

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


Spinal rigidity

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


Cervical subluxation

description: A partial dislocation of one or more intervertebral joints in the cervical vertebral column.


Abnormal odontoid process morphology

description: Abnormal structure of the odontoid process, which is a part of the C2 or axis vertebra and forms pivot of the structures forming the craniovertebral junction. The odontoid process is also known as the dens of the axis.


Abnormal form of the vertebral bodies

description: Abnormal morphology of vertebral body.


Butterfly vertebrae

description: A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray.


Abnormality of the cervical spine

description: Any abnormality of the cervical vertebral column.


C1-C2 subluxation

description: A partial dislocation of the atlantoaxial joints.


Generalized muscle weakness

description: Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.


Limb-girdle muscle weakness

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


Myalgia

description: Pain in muscle.


Axial muscle weakness

description: Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs).


Abnormal hairshaft morphology

description: An abnormal structure of the hairshaft, i.e., of the nongrowing portion of a hair that protrudes from the skin.


name: Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes


Abnormal bone structure

description: Any anomaly in the composite material or the layered arrangement of the bony skeleton.


name: Elevated circulating catecholamine level

description: An abnormal increase in catecholamine concentration in the blood.


Abnormal enchondral ossification

description: An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage.


Reduced prothrombin consumption

description: The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia.


name: Focal necrosis of right ventricular muscle cells


description: A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid.


Lamina lucida cleavage

description: The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin.


3-Methylglutaric aciduria

description: An abnormally increased level of 3-hydroxy-3-methylglutaric acid in the urine.


Elevated urinary norepinephrine level

description: The concentration of noradrenaline in the urine, normalized for urine concentration, is above the upper limit of normal.


name: Impaired lymphocyte transformation with phytohemagglutinin

description: Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes.


Low cholesterol esterification rate

description: A reduction in the rate of cholesterol esterification.


Decreased circulating renin level

description: An decreased level of renin in the blood.


name: Endopolyploidy on chromosome studies of bone marrow

description: An increase in the number of chromosome sets per cell in bone marrow cells.


Propionyl-CoA carboxylase deficiency

description: An abnormality of amino acid metabolism characterized by a decreased level of propionyl-CoA carboxylase.


Thymic hormone decreased

description: A reduction in the level of thymic horomone.


Elevated intracellular cystine

description: An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells.


Decreased urinary sulfate

description: Decreased concentration of sulfate in the urine.


Tryptophanuria

description: An increased concentration of tryptophan in the urine.


name: Increased VLDL cholesterol concentration

description: An increase in the amount of very-low-density lipoprotein cholesterol in the blood.


Abdominal situs inversus

description: A left-right reversal (or "mirror reflection") of the anatomical location of the viscera of the abdomen.


Arthralgia of the hip

description: Joint pain affecting the hip.


Abnormal femoral neck morphology

description: An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).


Abnormal femoral head morphology

description: An abnormality of the femoral head.


Flat capital femoral epiphysis

description: An abnormal flattening of the proximal epiphysis of the femur.


name: Enlargement of the proximal femoral epiphysis

description: An abnormal enlargement of the proximal epiphysis of the femur.


Narrow greater sciatic notch

description: A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.


Steppage gait

description: An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.


Axonal degeneration/regeneration

description: A pattern of simultaneous degeneration and regeneration of axons (see comment).


name: Decreased number of peripheral myelinated nerve fibers

description: A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy).


Onion bulb formation

description: Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.


Peripheral axonal atrophy

description: Atrophic changes of axons of the peripheral nervous system.


name: Decreased number of large peripheral myelinated nerve fibers

description: A reduced number of large myelinated nerve fibers.


Easy fatigability

description: Increased susceptibility to fatigue.


Sensory axonal neuropathy

description: An axonal neuropathy of peripheral sensory nerves.


Gowers sign

description: A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.


Thenar muscle atrophy

description: Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb.


Muscle spasm

description: Sudden and involuntary contractions of one or more muscles.


name: Generalized hypotonia due to defect at the neuromuscular junction


name: Abnormal synaptic transmission at the neuromuscular junction

description: Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers.


Basal lamina onion bulb formation

description: A type of onion bulb formation prominently affecting the area of the basal lamina.


Paresthesia

description: Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.


Decreased miniature endplate potentials

description: An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.


name: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation

description: A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation.


name: Distal sensory impairment of all modalities

description: Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities.


name: Proximal femoral metaphyseal irregularity

description: Irregularity of the normally smooth surface of the proximal metaphysis of the femur.


Atlantoaxial abnormality

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


Atlantoaxial dislocation

description: Partial dislocation of the atlantoaxial joint.


Spinal canal stenosis

description: An abnormal narrowing of the spinal canal.


Coronal cleft vertebrae

description: Frontal schisis (cleft or cleavage) of vertebral bodies.


Back pain

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


Low back pain

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


Vertebral segmentation defect

description: An abnormality related to a defect of vertebral separation during development.


CNS hypomyelination

description: Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.


name: Decreased motor nerve conduction velocity

description: A type of decreased nerve conduction velocity that affects the motor neuron.


Prolonged miniature endplate currents

description: An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.


Absent Achilles reflex

description: Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.


Decreased size of nerve terminals

description: A reduction in the size of nerve terminals.


EMG: chronic denervation signs

description: Evidence of chronic denervation on electromyography.


EMG: neuropathic changes

description: The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials).


Axonal loss

description: A reduction in the number of axons in the peripheral nervous system.


name: Decreased sensory nerve conduction velocity

description: Reduced speed of conduction of the action potential along a sensory nerve.


Cold-induced muscle cramps

description: Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures.


Axonal regeneration

description: The presence of axonal regeneration following a previous axonal lesion.


name: Increased rate of premature chromosome condensation

description: An increased rate of premature chromosome condensation.


name: Increased circulating iron concentration

description: The concentration of iron in the blood circulation is above the upper limit of normal.


Antineutrophil antibody positivity

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


Platelet antibody positive

description: The presence in the serum of autoantibodies directed against thrombocytes.


name: Elevated circulating long chain fatty acid concentration

description: Increased concentration of long-chain fatty acids in the blood circulation.


name: Low urinary cyclic AMP response to PTH administration


EMG abnormality

description: Abnormal results of investigations using electromyography (EMG).


EMG: myopathic abnormalities

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


Polyclonal elevation of IgM

description: A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis.


Decreased circulating total IgA

description: Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L).


name: Increased urinary O-linked sialopeptides

description: Excretion of peptides conjugated to sialic acid in the urine.


name: Increased extraneuronal 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 extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.


name: Paradoxical increased cortisol secretion on dexamethasone suppression test


Atlantoaxial instability

description: Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly.


Abnormal vertebral morphology

description: An abnormality of one or more of the vertebrae.


Peripheral dysmyelination

description: Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination.


Hypocalcemic tetany

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


Fatigable weakness

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


Somatic sensory dysfunction

description: An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.


description: A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves.


EMG: axonal abnormality

description: Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials.


Upper limb muscle weakness

description: Weakness of the muscles of the arms.


Babinski sign

description: Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.


Elevated urine pyrophosphate

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


High urinary gonadotropin level

description: An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism.


Antinuclear antibody positivity

description: The presence of autoantibodies in the serum that react against nuclei or nuclear components.


GM2-ganglioside accumulation

description: Cellular accumulation of GM2 gangliosides.


Increased circulating IgM level

description: An abnormally increased level of immunoglobulin M in blood.


Disproportionate short stature

description: A kind of short stature in which different regions of the body are shortened to differing extents.


Mild short stature

description: A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.


Proportionate short stature

description: A kind of short stature in which different regions of the body are shortened to a comparable extent.


name: Reduced ratio of renal calcium clearance to creatinine clearance

description: A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01.


name: Deficiency or absence of cytochrome b(-245)


name: Birth length greater than 97th percentile


name: Disproportionate short-trunk short stature

description: A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.


Decreased methionine synthase activity

description: A reduction in methionine synthase activity.


Orotic acid crystalluria

description: Formation of crystals owing to an increased concentration of orotic acid in the urine.


Hyperprostaglandinuria

description: An increased concentration of prostaglandin in the urine.


name: Elevated circulating calcitonin concentration

description: Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation above the upper limit of normal.


name: Parathormone-independent increased renal tubular calcium reabsorption

description: An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels.


name: Elevated circulating glutaric acid concentration

description: An increased concentration of glutaric acid in the blood.


Ornithinuria

description: Level of ornithine in the urine above the upper limit of normal.


name: Reduced acetaldehyde dehydrogenase level

description: Decreased level of acetaldehyde dehydrogenase (ALDH). ALDH and alcohol dehydrogenase (ADH) are the primary enzymes involved in alcohol metabolism.


Decreased fumarate hydratase activity

description: An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity.


Hypouricemia

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


Increased iduronate sulfatase level

description: An increased level of iduronate-2-sulfatase activity in the blood.


Impaired platelet aggregation

description: An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.


Urinary glycosaminoglycan excretion

description: Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit.


Increased serum pyruvate

description: An increased concentration of pyruvate in the blood.


Exercise intolerance

description: A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.


Shoulder girdle muscle weakness

description: The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.


name: Subsarcolemmal accumulations of abnormally shaped mitochondria

description: An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology.


Abnormality of connective tissue

description: Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat).


Predominantly lower limb lymphedema

description: Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs.


Difficulty climbing stairs

description: Reduced ability to climb stairs.


Muscle stiffness

description: A condition in which muscles cannot be moved quickly without accompanying pain or spasm.


Type 2 muscle fiber atrophy

description: Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy.


Muscle fiber splitting

description: Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches.


name: Increased variability in muscle fiber diameter

description: An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.


Viral infection-induced rhabdomyolysis

description: Rhabdomyolysis induced by a viral infection.


Folate-dependent fragile site at Xq28

description: The presence of a folate sensitive fragile site at chromosome Xq28.


Elevated erythrocyte sedimentation rate

description: An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.


Increased serum prostaglandin E2

description: An increased concentration of prostaglandin E2 in the blood.


name: Decreased glucosephosphate isomerase level

description: A decreased level of glucose-6-phosphate isomerase.


Low plasma citrulline

description: A decreased concentration of citrulline in the blood.


Increased total bilirubin

description: Increased concentration of total (conjugated and unconjugated) bilirubin in the blood.


Positive regitine blocking test

description: A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension.


Increased intracellular sodium

description: An abnormally increased sodium concentration in the cytosol.


Congenital onset

description: A phenotypic abnormality that is present at birth.


Adult onset

description: Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later.


Infantile onset

description: Onset of signs or symptoms of disease between 28 days to one year of life.


Middle age onset

description: A type of adult onset with onset of symptoms at the age of 40 to 60 years.


Absent urinary urothione

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


name: Foam cells with lamellar inclusion bodies

description: The presence of foam cells that contain lamellar inclusion bodies.


Positive ferric chloride test

description: If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood.


Antiphospholipid antibody positivity

description: The presence of circulating autoantibodies to phospholipids.


name: Premature separation of centromeric heterochromatin


Neonatal onset

description: Onset of signs or symptoms of disease within the first 28 days of life.


Amyoplasia

description: Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue.


name: Loss of subcutaneous adipose tissue in limbs

description: Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg.


name: Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity

description: Activity or concentration of 4-hydroxyphenylpyruvate dioxygenase in the blood circulation below the lower limit of normal.


Elevated urinary epinephrine level

description: The concentration of epinephrine in the urine, normalized for urine concentration, is above the upper limit of normal.


CNS foam cells

description: The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the central nervous system.


Type I transferrin isoform profile

description: Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II.


Prolonged partial thromboplastin time

description: Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms.


Bicarbonaturia

description: Abnormally increased concentration of hydrogencarbonate in the urine.


name: Electron transfer flavoprotein-ubiquinone oxidoreductase defect

description: A deficiency of the electron transfer flavoprotein-ubiquinone oxidoreductase.


Lacticaciduria

description: An increased concentration of lactic acid in the urine.


Abnormality of glycoside metabolism

description: Abnormality of glycoside metabolism.


Foam cells

description: The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance.


Cellular metachromasia

description: Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans.


name: Reduced level of N-acetylglucosaminyltransferase II

description: An abnormality of glycoprotein metabolism related to a decreased level of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity.


Decreased beta-glucocerebrosidase level

description: Reduced level of the enzyme beta-glucosidase, an enzyme that catalyzes the hydrolysis of glucosylceramide into ceramide and glucose.


name: Vascular granular osmiophilic material deposition

description: Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide. Deposition of granular osmiophilic material (GOM) is the vascular pathological hallmark of CADASIL, which is the most prevalent hereditary small vessel disease and is caused by missense mutations in the NOTCH3 gene. GOM have been shown to contain NOTCH3 ectodomain (NOTCH3ECD) and extracellular matrix proteins, and can be visualized ultrastructurally in the tunica media of small arteries and capillaries. These electron dense GOM deposits are located in the basement membrane of mural cells, i.e. vascular smooth muscle cells and pericytes. In both manifest and pre-manifest CADASIL patients, GOM deposits are present not only in brain vessels, but also in vessels of other organs, such as the skin.


Hypomethioninemia

description: A decreased concentration of methionine in the blood.


name: Amyotrophy of the musculature of the pelvis

description: Muscular atrophy affecting the muscles of the pelvis.


Progressive

description: Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age.


Slowly progressive

description: Applies to a disease manifestation that only slowly increases in scope or severity over the course of time.


Rapidly progressive

description: Applies to a disease manifestation that quickly increases in scope or severity over the course of time.


Nonprogressive

description: Applies to a disease manifestation that does not increase in scope or severity over the course of time, i.e., that does not worsen with age.


Variable progression rate

description: Applies to a disease manifestation that quickly increases in scope or severity with a rate that varies. For instance, progression may be slow in one time period and rapid in another.


name: Centrally nucleated skeletal muscle fibers

description: An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).


name: Cytochrome C oxidase-negative muscle fibers

description: An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue.


Multiple mitochondrial DNA deletions

description: The presence of multiple deletions of mitochondrial DNA (mtDNA).


Limb muscle weakness

description: Reduced strength and weakness of the muscles of the arms and legs.


Scapular winging

description: Abnormal protrusion of the scapula away from the surface of the back.


Distal amyotrophy

description: Muscular atrophy affecting muscles in the distal portions of the extremities.


Late-onset proximal muscle weakness

description: Lack of strength of the proximal musculature occurring late in the clinical course.


name: Absent epiphysis of the distal phalanx of the 5th finger

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


Scapuloperoneal amyotrophy

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


Generalized amyotrophy

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


Proximal muscle weakness

description: A lack of strength of the proximal muscles.


Calf muscle pseudohypertrophy

description: Enlargement of the muscles of the calf due to their replacement by connective tissue or fat.


Exercise-induced muscle cramps

description: Sudden and involuntary contractions of one or more muscles brought on by physical exertion.


Skeletal muscle hypertrophy

description: Abnormal increase in muscle size and mass not due to training.


Muscle fiber necrosis

description: Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers.


name: Generalized muscular appearance from birth


Muscle mounding

description: Percussion-induced, local prolonged contractions (mounding) in muscle persisting for several seconds.


Generalized muscle hypertrophy

description: Hypertrophy (increase in size) of muscle tissue in a generalized (not localized) distribution.


Neck flexor weakness

description: Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior).


Shoulder girdle muscle atrophy

description: Amyotrophy affecting the muscles of the shoulder girdle.


EMG: myotonic runs

description: Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG).


Quadriceps muscle weakness

description: Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris).


Thigh hypertrophy

description: Muscle hypertrophy affecting the thighs.


Autophagic vacuoles

description: The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue.


Exercise-induced myalgia

description: The occurrence of an unusually high amount of muscle pain following exercise.


Myotonia with warm-up phenomenon

description: Myotonia that occurs after a period of rest and decreases with continuing exercise.


Pelvic girdle muscle weakness

description: Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis.


Increased muscle fatiguability

description: An abnormal, increased fatiguability of the musculature.


Episodic flaccid weakness

description: Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching.


name: Type 1 fibers relatively smaller than type 2 fibers

description: The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers.


Reduced subcutaneous adipose tissue

description: A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness.


Hypoplasia of lymphatic vessels

description: Congenital underdevelopment of lymph vessels.


name: Percussion-induced rapid rolling muscle contractions

description: Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle.


Excessive salivation

description: Excessive production of saliva.


Eunuchoid habitus

description: A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more).


name: Decreased CSF homovanillic acid concentration

description: Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.


name: Type 1 and type 2 muscle fiber minicore regions

description: Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers.


name: Deposits immunoreactive to beta-amyloid protein


Short middle phalanx of toe

description: Developmental hypoplasia (shortening) of middle phalanx of toe.


Irregular iliac crest

description: Irregularity of the iliac crest, which is the superior border of the wing of the ilium.


Limb-girdle muscle atrophy

description: Muscular atrophy affecting the muscles of the limb girdle.


Nemaline bodies

description: Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces.


name: Muscle abnormality related to mitochondrial dysfunction


Type 1 muscle fiber predominance

description: An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).


Rimmed vacuoles

description: Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions.


Reduced intrathoracic adipose tissue

description: An abnormally reduced amount of adipose tissue in the thoracic cavity.


Neonatal death

description: Death within the first 28 days of life.


Phenotypic variability

description: A variability of phenotypic features.


Death in childhood

description: Death in during childhood, defined here as between the ages of 2 and 10 years.


Variable expressivity

description: A variable severity of phenotypic features.


Typified by incomplete penetrance

description: Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years.


Shoulder dislocation

description: A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation.


Shoulder subluxation

description: A partial dislocation of the shoulder joint.


name: Soft-tissue ossification around the shoulders

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


name: Abnormal upper limb epiphysis morphology


name: Delayed upper limb epiphyseal ossification

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


name: Wide epiphyseal plates of the upper limbs


Flared upper limb metaphysis

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


name: Lytic defects in metaphyses of the upper limbs


name: Normal density transverse bands in metaphyses of the upper limbs


name: Sclerosis with transverse striations in metaphyses of the upper limbs


name: Sclerosis of metaphyses of the upper limbs


Upper limb metaphyseal widening

description: Increased width (breadth) of metaphyses of the arms.


name: Cortical diaphyseal irregularity of the upper limbs


name: Cortical diaphyseal thickening of the upper limbs


Diaphyseal sclerosis of the upper limbs

description: An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Absent humerus

description: Missing humerus bone associated with congenital failure of development.


Bifid humerus

description: Clefting affecting the humerus.


Bowed humerus

description: A bending or abnormal curvature of the humerus.


Humeral exostoses

description: Presence of more than one exostosis originating in one or noth humerus bones. 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.


Humeral lytic defects

description: Destruction of an area of humerus bone due to a disease process, such as cancer.


Slender humerus

description: Reduction in diameter of the humerus.


Abnormality of the humeral epiphysis

description: An anomaly of the humeral epiphysis.


Absent humeral epiphyseal ossification

description: Lack of formation of bone in the epiphysis of the humerus.


name: Advanced ossification of the humeral epiphysis

description: Ossification of the humeral epiphysis at an earlier age than normal.


Delayed humeral epiphyseal ossification

description: A delay in the process of formation and maturation of the humeral epiphysis.


name: Irregular ossification of the humeral epiphyses


name: Stippled calcification of the humeral epiphyses


Epiphyseal stippling of the humerus

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the humeral epiphysis.


Broad humeral epiphyses

description: Increased width of the humeral epiphysis.


name: Abnormality of the humeral epiphyseal plate


Broad humeral epiphyseal plate

description: Increased width of the humeral epiphyseal growth plate.


Corner fracture of metaphysis

description: Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias.


name: Cortical subperiosteal resorption of humeral metaphyses


Flared humeral metaphysis

description: Flaring (increase of width with a splayed appearance) of the humeral metaphysis.


name: Irregular ossification of humeral metaphyses


name: Sclerotic humeral metaphysis with longitudinal striations


name: Stippled calcification of humeral metaphysis


Abnormal humeral diaphysis morphology

description: An anomaly of the humeral diaphysis.


name: Cortical irregularity of humeral diaphysis

description: An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus.


name: Cortical thickening of humeral diaphysis


name: Ground glass opacity of humeral diaphysis


name: Periosteal new bone of humeral diaphysis


Wide humeral diaphysis

description: Increased width of the humeral diaphysis.


Humeroulnar synostosis

description: An abnormal osseous union (fusion) between the ulna and the humerus.


name: Abnormality of the joint spaces of the elbow


name: Irregular articular surfaces of the elbow joints


name: Abnormality of the epiphyses of the elbow


Delayed elbow epiphyseal ossification

description: A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow.


Distal humeral metaphyseal irregularity

description: Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow).


name: Sclerotic foci of metaphyses of the elbow


Absent forearm bone

description: Absence of one or more forearm bones associated with congenital failure of development.


Bone-in-a-bone appearance of forearm

description: A descriptive term for a forearm bone that appears to have an additional bone within it on radiography.


Bowed forearm bones

description: A bending or abnormal curvature affecting either the radius, the ulna, or both.


name: Cortical thickening of the forearm bones


Fractured forearm bones

description: Bone fracture in the radius, ulna, or wrist.


Broad forearm bones

description: Abnormally wide bone of the skeleton of forearm.


Absent radius

description: Missing radius bone associated with congenital failure of development.


Fractured radius

description: Traumatic or pathological injury to the radius bone in which the continuity of the bone is broken.


Broad radius

description: Increased width of the radius.


Aplasia of the ulna

description: Missing ulna bone associated with congenital failure of development.


Long ulna

description: Increased length of the ulna.


Osteosclerosis of the ulna

description: Osteosclerosis (increased density related to increased bone mass) of the ulna.


Slender ulna

description: Reduction in diameter of the ulna.


Broad ulna

description: Increased width of the ulna.


Dislocated wrist

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


Cone-shaped distal radial epiphysis

description: The distal epiphysis (rounded portion of bone at the far end of the radius distal to the growth plate) has an abnormal cone-shaped appearance.


name: Premature fusion of the radial epiphyseal plates

description: A premature fusion of the epiphyseal plates of the radius. Epiphyseal plates are located at the distal and proximal ends of the long bones, in this case of the radius and premature fusion will have an effect on the growh of the radial bone, inhibiting or at least disturbing the normal growth and development of the bone.


Broad radial epiphyseal plate

description: Abnormal increase in width of the epiphyseal growth plate of the radius.


Flared radial metaphysis

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


Radial metaphyseal irregularity

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


name: Irregular ossification of the radial metaphysis


name: Sclerotic radial metaphysis with longitudinal striations


Broad radial metaphysis

description: Increase in width (breadth) of the radial metaphysis.


Abnormality of radial diaphysis

description: An anomaly of the radial diaphysis.


Broad radial diaphysis

description: Increase in width of the diaphysis of radius.


Abnormal olecranon morphology

description: Any structural abnormality of the olecranon, a bony eminence of the proximal ulna.


name: Abnormal ulnar styloid process morphology


Abnormal ulnar metaphysis morphology

description: Any structural abnormality of the portion of the ulna between the epiphysis and the diaphysis.


Ulnar metaphyseal irregularity

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


Sloping ulnar metaphysis

description: A sloped configuration of the metaphysis (shaft) of the ulna.


Wide ulnar metaphysis

description: Increase in width (breadth) of the ulnar metaphysis.


Advanced ossification of the hand bones

description: Ossification of hand bones at an earlier age than normal.


Delayed ossification of the hand bones

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


name: Dysharmonic maturation of the hand bones

description: Pattern of hand-wrist development does not fit the normal sequence of ossification of the individual bones of the hand.


Sclerosis of hand bone

description: Osteosclerosis affecting one or more bones of the hand.


Mitten deformity

description: Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a "mitten" hand deformity.


Radial club hand

description: Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius.


Trident hand

description: A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits.


Deviation of finger

description: Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges.


Abnormal 2nd finger morphology

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


Midline nasal groove

description: An abnormal groove on the midline of the nose that may extend to the nasal tip.


Midline defect of the nose

description: This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip.


Dimple on nasal tip

description: An abnormal indentation of the skin in the region of the nasal tip.


Abnormal 3rd finger morphology

description: An anomaly of the third finger.


name: Abnormality of the middle phalanx of the 3rd finger


Short distal phalanx of the 3rd finger

description: Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger.


name: Osteolytic defects of the phalanges of the 4th finger

description: Osteolytic defects of the phalanges of the 4th (ring) finger.


Symphalangism of the 4th finger

description: Fusion of two or more bones of the 4th finger.


Abnormal 5th finger morphology

description: An abnormality affecting one or both 5th fingers.


Clinodactyly of the 5th finger

description: Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).


Abnormal 5th finger phalanx morphology

description: Abnormality of the phalanges of the 5th (little) finger.


Curved phalanges of the 5th finger

description: Curved phalanges of the 5th (little) finger.


name: Osteolytic defects of the phalanges of the 5th finger

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


Symphalangism of the 5th finger

description: Fusion of two or more bones of the 5th finger.


name: Abnormality of the middle phalanx of the 5th finger


name: Cone-shaped epiphysis of the distal phalanx of the 5th finger

description: A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.


name: Ivory epiphysis of the distal phalanx of the 5th finger

description: Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


name: Abnormality of the epiphysis of the middle phalanx of the 5th finger

description: Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.


name: Abnormality of the distal phalanx of the 5th finger

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


Curved distal phalanx of the 5th finger

description: Curved appearance of the distal phalanx of the 5th (little) finger.


Short distal phalanx of the 5th finger

description: Hypoplastic/small distal phalanx of the fifth finger.


name: Subluxation of the proximal interphalangeal joint of the little finger

description: A partial dislocation of the proximal interphalangeal joint of the little finger.


Carpal bone aplasia

description: Congenital absence of a carpal bone.


Accessory carpal bones

description: The presence of more than the normal number of carpal bones.


Advanced ossification of carpal bones

description: Ossification of carpal bones at an abnormally early age.


name: Bone-in-a-bone appearance of carpal bones

description: The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones.


Irregular carpal bones

description: Carpal bones with irregular or fragmented margins.


Large carpal bones

description: Increased size of carpal bones.


Stippled calcification in carpal bones

description: Point-shaped (punctate) calcifications affecting the carpal bones.


Delayed ossification of the scaphoid

description: Formation of bone tissue of scaphoid is less than expected for age.


Small scaphoid

description: Underdevelopment of the scaphoid.


Lunate-triquetral fusion

description: Osseous fusion of the lunate and triquetrum.


Abnormality of the trapezium

description: An anomaly of trapezium.


Delayed ossification of the trapezium

description: Formation of bone tissue of trapezium is less than expected for age.


Small trapezium

description: Underdevelopment of the trapezium.


name: Delayed ossification of the trapezoid bone

description: Formation of bone tissue of trapezoid is less than expected for age.


Small trapezoid bone

description: Underdevelopment of the trapezoid.


name: Osteoarthritis of the small joints of the hand


name: Subluxation of the small joints of the hand

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


Exostoses of hand bones

description: Abnormal formation of new bone on the surface of a bone of the hand.


Fractured hand bones

description: A traumatic break in one or more of the bones in the hand.


Synostosis involving bones of the hand

description: An abnormal union between bones or parts of bones of the hand.


Short palm

description: Short palm.


Narrow palm

description: For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length.


name: Sclerosis of hand bones with transverse striations


name: Synostosis of second metacarpal-trapezoid

description: Fusion of the second metacarpal-trapezoid.


name: Subluxation of metacarpal phalangeal joints

description: A partial dislocation affecting some or all of the metacarpophalangeal joints.


Abnormal gastric mucosa morphology

description: An abnormality of the gastric mucous membrane.


name: Abnormal gastrointestinal vascular morphology


Abnormality of the biliary system

description: An abnormality of the biliary system.


Abnormality of the abdominal wall

description: The presence of any abnormality affecting the abdominal wall.


Hernia of the abdominal wall

description: The presence of a hernia in the abdominal wall.


Abnormal muscle fiber morphology

description: Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers.


Involuntary movements

description: Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.


Abnormal endocardium morphology

description: An abnormality of the endocardium.


Abnormal anatomic location of the heart

description: Developmental defect characterized by an anomalous anatomic location of the heart.


Ventricular arrhythmia

description: A disorder characterized by an electrocardiographic finding of an atypical cardiac rhythm resulting from a pathologic process in the cardiac ventricles.


Ventricular preexcitation

description: An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway.


Abnormal macrophage morphology

description: An abnormality of macrophages.


Abnormal reticulocyte morphology

description: A reticulocyte abnormality.


Vaginal fistula

description: The presence of a fistula of the vagina.


Bladder fistula

description: The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin.


Short stature

description: A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).


Abnormality of body weight

description: An abnormal increase or decrease of weight or an abnormal distribution of mass in the body.


Increased body weight

description: Abnormally increased body weight.


Cachexia

description: Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.


Abnormal vitreous humor morphology

description: Any structural anomaly of the vitreous body.


name: Abnormal anterior eye segment morphology

description: An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humor: the cornea, iris, ciliary body, and lens).


name: Abnormal posterior eye segment morphology


Increased skull ossification

description: An increase in the magnitude or amount of ossification of the skull.


Decreased skull ossification

description: A reduction in the magnitude or amount of ossification of the skull.


Abnormal lymphocyte morphology

description: An abnormality of lymphocytes.


Bone-marrow foam cells

description: The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance.


Myelin outfoldings

description: The presence of excessive redundant myelin in the peripheral nerve sheath.


Abnormality of amino acid metabolism

description: Abnormality of an amino acid metabolic process.


name: Abnormal circulating aromatic amino acid concentration

description: Any deviation from the normal concentration of a aromatic amino acid in the blood circulation.


name: Abnormal circulating sulfur amino acid concentration

description: Any deviation from the normal concentration of a sulfur amino acid in the blood circulation.


Abnormality of galactoside metabolism

description: Abnormality of galactoside metabolism. A galactoside is a glycoside (a sugar moiety bound to some other moiety) containing galactose.


Abnormal glycosphingolipid metabolism

description: An abnormality of glycosphingolipid metabolism.


Ganglioside accumulation

description: Defects in the lysosomal glycosidases or specific co-activators, result in accumulation of the substrates, such as glycosphingolipids, including gangliosides in GM1 gangliosidosis (Tay-Sachs disease) and GM2 gangliosidosis (Sandhoff disease).


Weakness of muscles of respiration

description: Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles.


Abnormality of bone mineral density

description: This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ.


Reduced bone mineral density

description: A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.


name: Abnormal circulating purine concentration

description: Any deviation from the normal concentration of a purine in the blood circulation.


name: Abnormal circulating pyrimidine concentration

description: Any deviation from the normal concentration of a pyrimidine in the blood circulation.


name: Abnormal circulating carboxylic acid concentration

description: Any deviation from the normal concentration of a carboxylic acid in the blood circulation.


name: Abnormal circulating leucine concentration

description: Any deviation from the normal circulation of leucine in the blood circulation.


name: Abnormal circulating fatty-acid concentration

description: A deviation from the normal concentration of a fatty acid in the blood circulation.


Abnormality of acid-base homeostasis

description: An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH.


name: Abnormal circulating leptin concentration

description: An abnormal concentration of leptin in the blood.


Abnormal enteric ganglion morphology

description: An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow.


name: Abnormal circulating calcium concentration

description: Any deviation from the normal concentration of calcium in the blood circulation.


name: Abnormal circulating nitrogen compound concentration

description: Any deviation from the normal concentration of a nitrogen compound in the blood circulation.


name: Abnormal circulating tryptophan concentration

description: Any deviation from the normal concentration of tryptophan in the blood circulation.


Abnormality of glycolysis

description: An abnormality of glycolysis.


name: Increased circulating purine concentration

description: Abnormally elevated concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring.


name: Decreased circulating purine concentration

description: Abnormally reduced concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring.


Abnormality of temperature regulation

description: An abnormality of temperature homeostasis.


description: Abnormality of glycosaminoglycan metabolism.


Reduced consciousness

description: Abnormally diminished level of attention, responsiveness, or wakefulness.


Hemiplegia/hemiparesis

description: Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.


Abnormality of the anus

description: Abnormality of the anal canal.


name: Abnormality of alkaline phosphatase level

description: An abnormality of alkaline phosphatase level.


Mitral valve calcification

description: Abnormal calcification of the mitral valve.


Type I truncus arteriosus

description: Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries.


Gastrointestinal inflammation

description: Inflammation of the alimentary part of the gastrointestinal system.


Microcolon

description: A colon of abnormally small caliber.


Poor appetite

description: A reduced desire to eat.


Ectopic anus

description: Abnormal displacement or malposition of the anus.


Congenital pyloric atresia

description: Congenital atresia of the pylorus.


Abnormality of the pylorus

description: An abnormality of the pylorus.


Abnormal nipple morphology

description: An abnormality of the nipple.


Abnormality of the sense of smell

description: An anomaly in the ability to perceive and distinguish scents (odors).


Hyposmia

description: A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).


Deviated nasal septum

description: Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum.


Abnormality of the pulmonary artery

description: An abnormality of the pulmonary artery.


Pulmonary artery stenosis

description: An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


Recurrent thrombophlebitis

description: Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).


Arterial thrombosis

description: The formation of a blood clot inside an artery.


Elevated systolic blood pressure

description: Abnormal increase in systolic blood pressure.


Biparietal narrowing

description: A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull).


Flat forehead

description: A forehead with abnormal flatness.


Abnormal cheek morphology

description: An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. "Buccal" means relating to the cheek. The cheek is part of the midface


Elfin facies

description: This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations.


Recurrent viral infections

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


name: Decreased circulating complement C8 concentration

description: Concentration of the complement component C8 in the blood circulation below the lower limit of normal.


Cranial hyperostosis

description: Excessive growth of the bones of cranium, i.e., of the skull.


Coronal craniosynostosis

description: Premature closure of the coronal suture of skull.


Sagittal craniosynostosis

description: A kind of craniosynostosis affecting the sagittal suture.


Spherocytosis

description: The presence of erythrocytes that are sphere-shaped.


Stomatocytosis

description: The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.


Poikilocytosis

description: The presence of abnormally shaped erythrocytes.


Fulminant hepatic failure

description: Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver.


Preauricular skin furrow

description: A groove of the skin immediately in front of the ear.


Postauricular skin tag

description: A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear).


Abnormality of the middle ear ossicles

description: An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea).


Overfolding of the superior helices

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


Dilatated internal auditory canal

description: The presence of a dilated inner part of external acoustic meatus.


Congenital earlobe sinuses

description: Pits in the earlobes at the location where ears are typically pierced for earrings.


Absent brainstem auditory responses

description: Lack of measurable response to stimulation of auditory evoked potentials.


Postauricular pit

description: Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit.


name: Delayed brainstem auditory evoked response conduction time

description: An abnormal increase (delay) in the conduction time of the brainstem auditory-evoked response.


Anomalous tracheal cartilage

description: An abnormality of the C-shaped rings of hyaline cartilage, normally 16 to 20 in number, that occupy the anterior two-thirds of the circumference of the trachea (the posterior portion of the ring is completed by fibrous and smooth muscle tissue).


Atretic occipital cephalocele

description: A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues.


name: Aplasia cutis congenita over the scalp vertex

description: A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline.


Mandibular hyperostosis

description: Hyperostosis (bony overgrowth) of the mandible.


Persistent open anterior fontanelle

description: The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age.


name: Aplasia cutis congenita over parietal area

description: A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area.


Progressive macrocephaly

description: The progressive development of an abnormally large skull.


Relative macrocephaly

description: A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.


Craniofacial asymmetry

description: Asymmetry of the bones of the skull and the face.


Cessation of head growth

description: Stagnation of head growth seen as flattening of the head circumference curve.


Acrobrachycephaly

description: An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures.


Macrocephaly at birth

description: The presence of an abnormally large skull with onset at birth.


Large posterior fontanelle

description: An enlargement of the posterior fontanelle relative to age-dependent norms.


Widely patent fontanelles and sutures

description: An abnormally increased width of the cranial fontanelles and sutures.


Craniofacial hyperostosis

description: Excessive growth of the craniofacial bones.


name: Chronic rhinitis due to narrow nasal airway


Pancreatic islet-cell hyperplasia

description: Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells.


Long eyebrows

description: Increased length of the hairs of the eyebrows.


Temporal hypotrichosis

description: Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull).


name: Large clumps of pigment irregularly distributed along hair shaft


Generalized hypotrichosis

description: Reduced or lacking hair growth in a generalized distribution.


Sacral hypertrichosis

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


Generalized hypertrichosis

description: Generalized excessive, abnormal hairiness.


Cervical platyspondyly

description: A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine.


Increased spinal bone density

description: Increased bone density affecting the bones of the spine (vertebral column).


Pear-shaped vertebrae

description: Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours.


Beaking of vertebral bodies

description: Anterior tongue-like protrusions of the vertebral bodies.


Increased vertebral height

description: Increased top to bottom height of vertebral bodies.


Anterior wedging of T11

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


Sclerotic vertebral endplates

description: Sclerosis (increased density) affecting vertebral end plates.


Anterior scalloping of vertebral bodies

description: An excessive concavity of the anterior surface of one or more vertebral bodies.


Biconcave vertebral bodies

description: Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward.


Thoracic platyspondyly

description: A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the thoracic spine.


name: Hump-shaped mound of bone in central and posterior portions of vertebral endplate


name: Supernumerary vertebral ossification centers

description: Three ossification sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine.


name: Absent or minimally ossified vertebral bodies


Spina bifida occulta at L5

description: The closed form of spina bifida with incomplete closure of the vertebra L5 with intact overlying skin.


Absent vertebral body mineralization

description: A lack of bone mineralization of the vertebral bodies.


Unossified vertebral bodies

description: A lack of ossification of the vertebral bodies.


name: Anterior beaking of lower thoracic vertebrae

description: Anterior tongue-like protrusions of the lower thoracic vertebral bodies.


Anteriorly placed odontoid process

description: Anterior mislocalization of the dens of the axis.


name: Anterior concavity of thoracic vertebrae


Spina bifida occulta at S1

description: The closed form of spina bifida with incomplete closure of S1 with intact overlying skin.


Cleft vertebral arch

description: A discontinuity of the vertebral arch, i.e., of the posterior part of a vertebra.