Stickler Syndrome, Type I; Stl1

Description

Stickler syndrome is a clinically variable and genetically heterogeneous disorder characterized by ocular, auditory, skeletal, and orofacial abnormalities. Most forms of Stickler syndrome are characterized by the eye findings of high myopia, vitreoretinal degeneration, retinal detachment, and cataracts. Additional findings may include midline clefting (cleft palate or bifid uvula), Pierre Robin sequence, flat midface, sensorineural or conductive hearing loss, mild spondyloepiphyseal dysplasia, and early-onset osteoarthritis (summary by Baker et al., 2011). Genetic Heterogeneity of Stickler SyndromeSee {609508} for a form of Stickler syndrome type I that is solely or predominantly ocular and is also caused by mutation in the COL2A1 gene. Stickler syndrome type II (STL2 ), sometimes called the beaded vitreous type, is caused by mutation in the COL11A1 gene (OMIM ) on chromosome 1p21. These forms of Stickler syndrome are autosomal dominant.Autosomal recessive forms of Stickler syndrome include Stickler syndrome type IV (STL4 ), caused by mutation in the COL9A1 gene (OMIM ) on chromosome 6q13, and Stickler syndrome type V (STL5 ), caused by mutation in the COL9A2 gene (OMIM ) on chromosome 1p34.A disorder previously designated Stickler syndrome type III (STL3), or 'nonocular Stickler syndrome,' has been reclassified as a form of otospondylomegaepiphyseal dysplasia (OSMEDA ).

Clinical Features

• Intellectual disability
• Short stature
• Generalized hypotonia
• Hearing impairment
• Scoliosis
• Micrognathia
• Strabismus
• Sensorineural hearing impairment
• Abnormal facial shape
• Cleft palate

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