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Spondyloepiphyseal dysplasia congenita
1 OMIM reference -
1 associated gene
57 connected diseases
26 signs/symptoms
Disease Type of connection
Otospondylomegaepiphyseal dysplasia
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
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Schmidt type
Spondyloperipheral dysplasia - short ulna
Stickler syndrome type 1
Autosomal recessive Stickler syndrome
Multiple epiphyseal dysplasia due to collagen 9 anomaly
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Fibrochondrogenesis
Autosomal dominant macrothrombocytopenia
Camurati-Engelmann disease
Cystic fibrosis
Fetal and neonatal alloimmune thrombocytopenia
Glanzmann thrombasthenia
20p12.3 microdeletion syndrome
Brachydactyly type A2
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Ménière disease
Bilateral striopallidodentate calcinosis
Dermatofibrosarcoma protuberans
Familial multiple meningioma
Anaplastic ependymoma
CARASIL
Hyaluronidase deficiency
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
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
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
Stickler syndrome type 3
Weissenbacher- Zweymuller syndrome
Congenital stromal corneal dystrophy
Synonym(s):
- Congenital spondyloepiphyseal dysplasia
- SEDC
- Spranger-Wiedemann disease
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: unknown
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
COL2A1 P02458120140
Very frequent
- Abnormal vertebral size / shape
- Autosomal dominant inheritance
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Epiphyseal anomaly
- Narrow rib cage / thorax
- Short limbs / micromelia / brachymelia
- Short neck
- Short rib cage / thorax
- Short stature / dwarfism / nanism

Frequent
- Broad forehead
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Flat face
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypertelorism
- Lordosis
- Osteoarthritis
- Restricted joint mobility / joint stiffness / ankylosis
- Talipes-varus / metatarsal varus

Occasional
- Cataract / lens opacification
- Glaucoma
- Hearing loss / hypoacusia / deafness
- Kyphosis
- Myopia
- Nystagmus
- Retinal detachment
- Scoliosis