Total 56 clinical symptoms reported for Mucopolysaccharidosis type 1
Abnormal form of the vertebral bodies |
Abnormal morphology of vertebral body.
Synonyms:Abnormally shaped vertebrae |
Very frequent |
Abnormality of epiphysis morphology |
An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.
Synonyms:Abnormal shape of end part of bone; Abnormality of the epiphyses; Anomaly of the epiphyses; Epiphyseal abnormality |
Very frequent |
Abnormality of the metaphysis |
An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.
Synonyms:Abnormality of the wide portion of a long bone |
Very frequent |
Abnormality of the voice |
Synonyms:Abnormality of the voice; Voice abnormality |
Very frequent |
Chronic otitis media |
Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.
Synonyms:Chronic infections of the middle ear; Otitis media, chronic |
Very frequent |
Coarse facial features |
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Synonyms:Coarse face; Coarse facial appearance; Coarse facial features; Coarse facies |
Very frequent |
Corneal opacity |
A reduction of corneal clarity.
Synonyms:Corneal clouding; Corneal opacities; Reduction of corneal clarity; Scarring or clouding of the cornea of the eye |
Very frequent |
Generalized hirsutism |
Abnormally increased hair growth over much of the entire body.
Synonyms:Excessive hairiness over body |
Very frequent |
Hernia |
This section is currently in development.
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Very frequent |
Inguinal hernia |
Protrusion of the contents of the abdominal cavity through the inguinal canal.
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Very frequent |
Joint stiffness |
Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.
Synonyms:Joint stiffness; Stiff joint; Stiff joints |
Very frequent |
Scoliosis |
The presence of an abnormal lateral curvature of the spine.
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Very frequent |
Short stature |
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).
Synonyms:Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile |
Very frequent |
Sinusitis |
Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.
Synonyms:Sinus inflammation |
Very frequent |
Splenomegaly |
Abnormal increased size of the spleen.
Synonyms:Increased spleen size |
Very frequent |
Split hand |
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.
Synonyms:Claw hand; Claw hand deformities; Claw hands; Claw-hand deformities; Ectrodactyly of the hand; Hand ectrodactyly; Split hand; Split-hand |
Very frequent |