Rheumatology · Rheumatology / Connective tissue disorders
Stickler syndrome
also: Hereditary arthro-ophthalmopathy
Collagen disorder with ocular, auditory, orofacial and joint features.
- 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
- Alternative names & eponyms
- Hereditary arthro-ophthalmopathy
Etiology & mechanism
Type II or XI collagen defects.
Gene(s) involved (7)
Symptoms & signs (6)
In plain terms, someone with Stickler syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Kallmann syndrome
cleft palate, hearing loss
2 shared
Knobloch syndrome
high myopia, retinal detachment
2 shared
Marshall syndrome
hearing loss, high myopia
2 shared
Treacher Collins syndrome
cleft palate, micrognathia
1 shared
Acute retinal necrosis syndrome
retinal detachment
1 shared
Alport syndrome with diffuse leiomyomatosis
hearing loss
1 shared
Alström syndrome
hearing loss
1 shared
Apert syndrome
cleft palate
1 shared
Bamforth–Lazarus syndrome
cleft palate
1 shared
Branchio-oto-renal syndrome
hearing loss
Shares genes with
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