Stickler syndrome

rare

Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases).

Identifiers: MONDO:0019354 Orphanet:828
Part of: Spondyloepiphyseal dysplasia Syndromic disease Vitreoretinal degeneration
Also known as: hereditary progressive arthroophthalmopathy

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Stickler syndrome type 1	MONDO:0007160	1
Stickler syndrome type 2	MONDO:0011493		COL11A1
Stickler syndrome, type 4	MONDO:0013590		COL9A1
Stickler syndrome, type 5	MONDO:0013666		COL9A2
Stickler syndrome, type 6	MONDO:0031047		COL9A3

Projects

Including projects on subtypes.

No projects yet.