ODCs

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1 OMIM reference -
1 associated gene
10 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
13 signs/symptoms

Multiple epiphyseal dysplasia, Beighton type

Spondyloperipheral dysplasia - short ulna

Citations in the biomedical literature:

Multiple epiphyseal dysplasia, Beighton type		Spondyloperipheral dysplasia - short ulna
	Synonym(s): - Multiple epiphyseal dysplasia - myopia - deafness		Synonym(s): (no synonyms)

	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: <1 / 1 000 000 Average age onset: - 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


COMMON SIGNS	- Autosomal dominant inheritance - Short hand / brachydactyly

Multiple epiphyseal dysplasia, Beighton type		Spondyloperipheral dysplasia - short ulna
	Very frequent - Absent / small fingernails / anonychia of hands - Conductive deafness / hearing loss - Epiphyseal anomaly - Flat face - Microstomia / little mouth - Myopia - Round face Frequent - Cataract / lens opacification		Very frequent - Abnormal vertebral size / shape - Cone epiphyses / epiphysis - Metacarpal anomalies / Archibald's sign - Metaphyseal anomaly - 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