ODCs

Click node...

Fibrochondrogenesis

2 OMIM references -
2 associated genes
30 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 6

Otospondylomegaepiphyseal dysplasia

1 OMIM reference -
2 associated genes
19 signs/symptoms

Fibrochondrogenesis

Otospondylomegaepiphyseal dysplasia

COL11A1	(UniProt - OMIM)		COL11A2	(UniProt - OMIM)
COL11A2	(UniProt - OMIM)		COL2A1	(UniProt - OMIM)


COMMON GENES	COL11A2


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL11A1 COL11A2	(0.52) (0.52)	COL2A1 COL2A1

Citations in the biomedical literature:

Fibrochondrogenesis		Otospondylomegaepiphyseal dysplasia
	Synonym(s): (no synonyms)		Synonym(s): - OSMED

	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 dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Abnormal vertebral size / shape - Anteverted nares / nostrils - Autosomal recessive inheritance - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Mesomelic micromelia - Metaphyseal anomaly

Fibrochondrogenesis		Otospondylomegaepiphyseal dysplasia
	Very frequent - Anomalies of the ribs - Diaphyseal anomaly - Flared chest / bell-shaped thorax / shield chest - Large fontanelle / delayed fontanelle closure - Narrow rib cage / thorax - Proptosis / exophthalmos - Round face - Short hand / brachydactyly - Short limbs / micromelia / brachymelia - Short neck - Short stature / dwarfism / nanism - Stillbirth / neonatal death Frequent - Absent / small fingernails / anonychia of hands - Anomalies of ear and hearing - Depressed nasal bridge - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Low set ears / posteriorly rotated ears - Microstomia / little mouth - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly Occasional - Camptodactyly of fingers - Hypertelorism - Omphalocele / exomphalos - Plagiocephaly		Very frequent - Flat cheek bones / malar hypoplasia - Flattened nose - 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