ODCs

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1 OMIM reference -
2 associated genes
19 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

1 OMIM reference -
1 associated gene
25 signs/symptoms

Otospondylomegaepiphyseal dysplasia

Spondyloepimetaphyseal dysplasia congenita, Strudwick type

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


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

Citations in the biomedical literature:

Otospondylomegaepiphyseal dysplasia		Spondyloepimetaphyseal dysplasia congenita, Strudwick type
	Synonym(s): - OSMED		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: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		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 - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Kyphosis - Lordosis - Metaphyseal anomaly

Otospondylomegaepiphyseal dysplasia		Spondyloepimetaphyseal dysplasia congenita, Strudwick type
	Very frequent - Abnormal vertebral size / shape - Anteverted nares / nostrils - Autosomal recessive inheritance - Flat cheek bones / malar hypoplasia - Flattened nose - Mesomelic micromelia - 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 Occasional - Carpal bones fusion / synostosis - Defect / anomaly of lacrimal system - Strabismus / squint - Ventricular septal defect / interventricular communication		Very frequent - Autosomal dominant inheritance - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Epiphyseal anomaly - Platyspondyly - Short limbs / micromelia / brachymelia - Short rib cage / thorax - Short stature / dwarfism / nanism Frequent - Abnormal gait - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Flat face - Genu valgum - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypertelorism - Myopia - Osteoarthritis - Retinal detachment Occasional - Genu varum - Odontoid hypoplasia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Scoliosis - Talipes-varus / metatarsal varus