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Stickler syndrome type 3
1 OMIM reference -
1 associated gene
28 connected diseases
13 signs/symptoms
Disease Type of connection
Otospondylomegaepiphyseal dysplasia
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Fibrochondrogenesis
Weissenbacher- Zweymuller syndrome
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Spondylocarpotarsal synostosis
Achondrogenesis type 2
Autosomal dominant rhegmatogenous retinal detachment
Czech dysplasia, metatarsal type
Dysspondyloenchondromatosis
Familial avascular necrosis of femoral head
Hypochondrogenesis
Kniest dysplasia
Legg-Calvé-Perthes disease
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Multiple epiphyseal dysplasia, Beighton type
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
Synonym(s):
- Stickler syndrome, nonocular type
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C537494
Gene symbol UniProt reference OMIM reference
COL11A2 P13942120290
Very frequent
- Articular / joint pain / arthralgia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Flat cheek bones / malar hypoplasia
- Long philtrum
- Mid-facial hypoplasia / short / small midface
- Sensorineural deafness / hearing loss

Frequent
- Glossoptosis
- Micrognathia / retrognathia / micrognathism / retrognathism
- Osteoarthritis

Occasional
- Exostoses
- Metacarpal anomalies / Archibald's sign
- Pectus carinatum
- Pectus excavatum