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1 OMIM reference -
1 associated gene
11 signs/symptoms
COMMON GENES: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Spondylometaphyseal dysplasia, Schmidt type
Familial avascular necrosis of femoral head

COL2A1 COL2A1


COMMON
GENES
COL2A1



Citations in the biomedical literature:


Spondylometaphyseal dysplasia, Schmidt type
COL2A1
Familial avascular necrosis of femoral head



Spondylometaphyseal dysplasia, Schmidt type
Familial avascular necrosis of femoral head

Synonym(s):
- Spondylometaphyseal dysplasia with severe genu valgum
- Spondylometaphyseal dysplasia, Algerian type

Synonym(s):
- Familial osteonecrosis of the femoral head

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
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

Spondylometaphyseal dysplasia, Schmidt type

Very frequent
- Autosomal dominant inheritance
- Genu valgum
- Kyphosis
- Metaphyseal anomaly
- Myopia
- Scoliosis
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism

Frequent
- Abnormal vertebral size / shape
- Joint / articular deformation
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality



Familial avascular necrosis of femoral head

(no data available)