ODCs

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Dysspondyloenchondromatosis

1 associated gene
22 signs/symptoms

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

Otospondylomegaepiphyseal dysplasia

1 OMIM reference -
2 associated genes
19 signs/symptoms

Dysspondyloenchondromatosis

Otospondylomegaepiphyseal dysplasia

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


COMMON GENES	COL2A1


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

Citations in the biomedical literature:

Dysspondyloenchondromatosis		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): (no data available)		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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Autosomal recessive inheritance - Capillary hemangioma / nevus / naevus flammeus / port-wine stain

Dysspondyloenchondromatosis		Otospondylomegaepiphyseal dysplasia
	Very frequent - Anomalies of cartilages, joints and periarticular tissue - Anomalies of spine, vertebrae and pelvis - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Exostoses - Joint / articular deformation - Lower limb asymmetry / hemiatrophy / hemihypertrophy - Scoliosis - Short stature / dwarfism / nanism - Vascular anomalies of skin / mucosae - Vertebral segmentation anomaly / hemivertebrae Frequent - Delayed bone age - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Genu valgum - Osteoarthritis - Platyspondyly - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray Occasional - Autosomal dominant inheritance - Bone / osseous neoplasm / tumor / carcinoma / cancer - Intellectual deficit / mental / psychomotor retardation / learning disability - Intracranial / cerebral calcifications		Very frequent - Abnormal vertebral size / shape - Anteverted nares / nostrils - 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 - 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