ODCs

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Otospondylomegaepiphyseal dysplasia

1 OMIM reference -
2 associated genes
19 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Achondrogenesis type 2

1 OMIM reference -
1 associated gene
25 signs/symptoms

Otospondylomegaepiphyseal dysplasia

Achondrogenesis type 2

COL11A2	(UniProt - OMIM)		COL2A1	(UniProt - OMIM)
COL2A1	(UniProt - OMIM)


COMMON GENES	COL2A1


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL11A2	(0.52)	COL2A1

Citations in the biomedical literature:

Otospondylomegaepiphyseal dysplasia		Achondrogenesis type 2
	Synonym(s): - OSMED		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: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		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	- Anteverted nares / nostrils

Otospondylomegaepiphyseal dysplasia		Achondrogenesis type 2
	Very frequent - Abnormal vertebral size / shape - Autosomal recessive inheritance - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Flat cheek bones / malar hypoplasia - Flattened nose - Mesomelic micromelia - Metaphyseal anomaly - Restricted joint mobility / joint stiffness / ankylosis - Sensorineural deafness / hearing loss Frequent - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Failure to thrive / difficulties for feeding in infancy / growth delay - Immunodeficiency / increased susceptibility to infections / recurrent infections - Kyphosis - Lordosis Occasional - Carpal bones fusion / synostosis - Defect / anomaly of lacrimal system - Strabismus / squint - Ventricular septal defect / interventricular communication		Very frequent - Abnormal / absent ossification - Autosomal dominant inheritance - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Excess nuchal skin without pterygium colli - Flat face - 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)