Stickler Syndrome, Type I; Stl1
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).
Clinical FeaturesTop most frequent phenotypes and symptoms related to Stickler Syndrome, Type I; Stl1
- Intellectual disability
- Short stature
- Generalized hypotonia
- Hearing impairment
- Sensorineural hearing impairment
- Abnormal facial shape
- Cleft palate
And another 70 symptoms. If you need more information about this disease we can help you.
Incidence and onset information— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.
Stickler Syndrome, Type I; Stl1 Is also known as arthroophthalmopathy, hereditary progressive, stickler syndrome, vitreous type 1, aom, stickler syndrome, membranous vitreous type.
Researches and researchersCurrently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.
Sources and references
You can check the following sources for additional information.OMIM Genetic Syndrome Finder
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