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Multiple epiphyseal dysplasia due to collagen 9 anomaly
3 OMIM references -
3 associated genes
23 connected diseases
12 signs/symptoms
Disease Type of connection
Autosomal recessive Stickler syndrome
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
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
Giant cell glioblastoma
Gliosarcoma
Multiple epiphyseal dysplasia type 1
Pseudoachondroplasia
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic 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:
3 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
COL9A1 P20849120210
COL9A2 Q14055120260
COL9A3 Q14050120270
Very frequent
- Autosomal dominant inheritance
- Epiphyseal anomaly
- Osteoarthritis

Frequent
- Abnormal gait
- Articular / joint pain / arthralgia
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Joint / articular deformation
- Restricted joint mobility / joint stiffness / ankylosis
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism

Occasional
- Genu valgum
- Genu varum