Total 25 clinical symptoms reported for Mucopolysaccharidosis type 6
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 |
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 |
Disproportionate short-trunk short stature |
A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.
Synonyms:Disproportionate short-trunked dwarfism; Disproportionate short-trunked short stature; Short-trunked dwarfism |
Very frequent |
Epiphyseal dysplasia |
Synonyms:Abnormal development of the ends of long bones in arms and legs |
Very frequent |
Failure to thrive |
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Synonyms:Faltering weight; Postnatal failure to thrive; Weight faltering |
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 |
Opacification of the corneal stroma |
Reduced transparency of the stroma of cornea.
Synonyms:Cloudy cornea; Corneal stromal opacity |
Very frequent |
Recurrent upper respiratory tract infections |
An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
Synonyms:Frequent upper respiratory infections; Frequent upper respiratory tract infections; Recurrent colds; Recurrent upper respiratory and lower respiratory infections; Recurrent upper respiratory infection; Recurrent upper respiratory infections; Recurrent URI; Upper respiratory tract infections; Upper respiratory tract infections, recurrent |
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 |
Thick lower lip vermilion |
Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).
Synonyms:Full lower lip vermilion; Increased height of lower lip vermilion; Increased volume of lower lip; Increased volume of lower lip vermilion; Plump lower lip; Prominent lower lip; Thick vermilion border of lower lip |
Very frequent |
Thick nasal alae |
Increase in bulk of the ala nasi.
Synonyms:Ala nasi, thick; Thickening of the alae nasi |
Very frequent |