Catalog

Stickler syndrome type 4

No MMS code

Link to WHO Definition

Stickler syndrome type 4 – http://id.who.int/icd/entity/1735024561

Autosomal recessive Stickler syndrome is a rare type of Stickler syndrome, found in one family to date, caused by a mutation in the COL9A1 gene, and like other dominantly inherited forms of the disease manifesting with ophthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms