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1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
26 signs/symptoms
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Spondyloepiphyseal dysplasia congenita

COL2A1 COL2A1


COMMON
GENES
COL2A1



Citations in the biomedical literature:


Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
COL2A1
Spondyloepiphyseal dysplasia congenita



Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Spondyloepiphyseal dysplasia congenita

Synonym(s):
(no synonyms)

Synonym(s):
- Congenital spondyloepiphyseal dysplasia
- SEDC
- Spranger-Wiedemann disease

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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
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
External references:
1 OMIM reference -
No MeSH references

Spondyloepiphyseal dysplasia congenita

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


Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis

(no data available)