ODCs

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1 OMIM reference -
1 associated gene
13 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 6

1 OMIM reference -
1 associated gene
11 signs/symptoms

Spondyloperipheral dysplasia - short ulna

Spondylometaphyseal dysplasia, Schmidt type

Citations in the biomedical literature:

Spondyloperipheral dysplasia - short ulna		Spondylometaphyseal dysplasia, Schmidt type
	Synonym(s): (no synonyms)		Synonym(s): - Spondylometaphyseal dysplasia with severe genu valgum - Spondylometaphyseal dysplasia, Algerian type

	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: <1 / 1 000 000 Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C535799		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Abnormal vertebral size / shape - Autosomal dominant inheritance - Metaphyseal anomaly - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism

Spondyloperipheral dysplasia - short ulna		Spondylometaphyseal dysplasia, Schmidt type
	Very frequent - Cone epiphyses / epiphysis - Metacarpal anomalies / Archibald's sign - Short hand / brachydactyly Frequent - Epiphyseal vertebral anomaly - Restricted joint mobility / joint stiffness / ankylosis - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray Occasional - Pectus carinatum		Very frequent - Genu valgum - Kyphosis - Myopia - Scoliosis Frequent - Joint / articular deformation