Stickler syndrome

Also known as: Hereditary arthro-ophthalmopathy

Collagen disorder with ocular, auditory, orofacial and joint features.

Medical specialty: Rheumatology
Subspecialty: Rheumatology / Connective tissue disorders
Sex & age distribution: Male: affected; Female: affected; Children: yes
Gene(s) involved: COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, LOXL3

Etiology & mechanism

Type II or XI collagen defects.

Gene(s) involved (7)

COL11A1COL11A2COL2A1COL9A1COL9A2COL9A3LOXL3

Symptoms & signs (6)

cleft palateearly arthritishearing losshigh myopiamicrognathiaretinal detachment

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.