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
25 signs/symptoms

Multiple epiphyseal dysplasia, Beighton type

Achondrogenesis type 2

Citations in the biomedical literature:

Multiple epiphyseal dysplasia, Beighton type		Achondrogenesis type 2
	Synonym(s): - Multiple epiphyseal dysplasia - myopia - deafness		Synonym(s): - Achondrogenesis, Langer-Saldino 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: <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: neonatal/infancy 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: C536017


COMMON SIGNS	- Autosomal dominant inheritance - Flat face

Multiple epiphyseal dysplasia, Beighton type		Achondrogenesis type 2
	Very frequent - Absent / small fingernails / anonychia of hands - Conductive deafness / hearing loss - Epiphyseal anomaly - Microstomia / little mouth - Myopia - Round face - Short hand / brachydactyly Frequent - Cataract / lens opacification		Very frequent - Abnormal / absent ossification - Anteverted nares / nostrils - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Excess nuchal skin without pterygium colli - Frontal bossing / prominent forehead - Hydrops fetalis - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Long philtrum - Macrocephaly / macrocrania / megalocephaly / megacephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Narrow rib cage / thorax - Short limbs / micromelia / brachymelia - Short neck - Short rib cage / thorax - Short stature / dwarfism / nanism - Short / small nose - Stillbirth / neonatal death Frequent - Inguinal / inguinoscrotal / crural hernia - Polyhydramnios - Umbilical hernia Occasional - Congenital cardiac anomaly / malformation / cardiopathy - Cystic hygroma - Postaxial polydactyly (hand)