ODCs

Click node...

1 OMIM reference -
2 associated genes
19 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
3 associated genes
7 signs/symptoms

Otospondylomegaepiphyseal dysplasia

Bethlem myopathy


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL2A1	(0.52)	COL6A1

Citations in the biomedical literature:

Otospondylomegaepiphyseal dysplasia		Bethlem myopathy
	Synonym(s): - OSMED		Synonym(s): - Benign autosomal dominant myopathy

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the nervous system -

	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: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535436


COMMON SIGNS	- Restricted joint mobility / joint stiffness / ankylosis

Otospondylomegaepiphyseal dysplasia		Bethlem myopathy
	Very frequent - Abnormal vertebral size / shape - Anteverted nares / nostrils - Autosomal recessive inheritance - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Flat cheek bones / malar hypoplasia - Flattened nose - Mesomelic micromelia - Metaphyseal anomaly - 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 EMG / electromyogram / electropmyography - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Autosomal dominant inheritance - Camptodactyly of fingers - Myopathy - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy