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Autosomal recessive Stickler syndrome
2 OMIM references -
4 associated genes
28 connected diseases
17 signs/symptoms
Disease Type of connection
Multiple epiphyseal dysplasia due to collagen 9 anomaly
Marshall syndrome
Stickler syndrome type 2
Achondrogenesis type 2
Autosomal dominant rhegmatogenous retinal detachment
Czech dysplasia, metatarsal type
Familial avascular necrosis of femoral head
Kniest dysplasia
Legg-Calvé-Perthes disease
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Multiple epiphyseal dysplasia, Beighton type
Otospondylomegaepiphyseal dysplasia
Platyspondylic dysplasia, Torrance type
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Spondyloepiphyseal dysplasia congenita
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Schmidt type
Spondyloperipheral dysplasia - short ulna
Stickler syndrome type 1
Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome type 2
Giant cell glioblastoma
Multiple epiphyseal dysplasia type 1
(no synonyms)

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
No MeSH references

Gene symbol UniProt reference OMIM reference
COL11A1 P12107120280
COL9A1 P20849120210
COL9A2 Q14055120260
COL9A3 Q14050120270
Very frequent
- Autosomal recessive inheritance
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Flat face
- Genu valgum
- Sensorineural deafness / hearing loss
- Short stature / dwarfism / nanism

- Abnormal vertebral size / shape
- Astigmatism
- Epiphyseal anomaly
- Hyperextensible joints / articular hyperlaxity
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Myopia
- Platyspondyly
- Retinitis pigmentosa / retinal pigmentary changes
- Retinopathy
- Visual loss / blindness / amblyopia
- Vitreous anomalies / hyalitis / persistent vitreous vascularisation