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1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
13 signs/symptoms
Hypochondrogenesis
Spondyloperipheral dysplasia - short ulna

COL2A1 COL2A1


COMMON
GENES
COL2A1



Citations in the biomedical literature:


Hypochondrogenesis
COL2A1
Spondyloperipheral dysplasia - short ulna



Hypochondrogenesis
Spondyloperipheral dysplasia - short ulna

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: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
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 -
1 MeSH reference: C535799

Spondyloperipheral dysplasia - short ulna

Very frequent
- Abnormal vertebral size / shape
- Autosomal dominant inheritance
- Cone epiphyses / epiphysis
- Metacarpal anomalies / Archibald's sign
- Metaphyseal anomaly
- Short hand / brachydactyly
- Short stature / dwarfism / nanism

Frequent
- Epiphyseal vertebral anomaly
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Restricted joint mobility / joint stiffness / ankylosis
- Short limbs / micromelia / brachymelia
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray

Occasional
- Pectus carinatum


Hypochondrogenesis

(no data available)