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Otospondylomegaepiphyseal dysplasia
1 OMIM reference -
2 associated genes
63 connected diseases
19 signs/symptoms
Disease Type of connection
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Fibrochondrogenesis
Achondrogenesis type 2
Autosomal dominant rhegmatogenous retinal detachment
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
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
Stickler syndrome type 3
Weissenbacher- Zweymuller syndrome
Autosomal recessive Stickler syndrome
Multiple epiphyseal dysplasia due to collagen 9 anomaly
Autosomal dominant macrothrombocytopenia
Camurati-Engelmann disease
Cystic fibrosis
Fetal and neonatal alloimmune thrombocytopenia
Glanzmann thrombasthenia
20p12.3 microdeletion syndrome
Brachydactyly type A2
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Ménière disease
Bilateral striopallidodentate calcinosis
Dermatofibrosarcoma protuberans
Familial multiple meningioma
Anaplastic ependymoma
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
CARASIL
Hyaluronidase deficiency
Spondylocarpotarsal synostosis
Fibronectin glomerulopathy
Granular corneal dystrophy type I
Granular corneal dystrophy type II
Lattice corneal dystrophy type I
Microcystic corneal dystrophy
Reis-Bücklers corneal dystrophy
Thiel-Behnke corneal dystrophy
Bethlem myopathy
Congenital muscular dystrophy, Ullrich type
Immunodeficiency due to an early component of complement deficiency
Marshall syndrome
Metaphyseal anadysplasia
Multiple epiphyseal dysplasia type 1
Pseudoachondroplasia
Severe generalized recessive dystrophic epidermolysis bullosa
Spondyloepimetaphyseal dysplasia, Missouri type
Stickler syndrome type 2
Congenital stromal corneal dystrophy
Synonym(s):
- OSMED
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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
COL11A2 P13942120290
COL2A1 P02458120140
Very frequent
- Abnormal vertebral size / shape
- Anteverted nares / nostrils
- Autosomal recessive inheritance
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Flat cheek bones / malar hypoplasia
- Flattened nose
- Mesomelic micromelia
- Metaphyseal anomaly
- Restricted joint mobility / joint stiffness / ankylosis
- Sensorineural deafness / hearing loss

Frequent
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Kyphosis
- Lordosis

Occasional
- Carpal bones fusion / synostosis
- Defect / anomaly of lacrimal system
- Strabismus / squint
- Ventricular septal defect / interventricular communication