ODCs

Cytoscape Web

Click node...

Dysspondyloenchondromatosis

1 associated gene
22 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

20p12.3 microdeletion syndrome

1 associated gene
24 signs/symptoms

Dysspondyloenchondromatosis

20p12.3 microdeletion syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL2A1	(0.79)	BMP2

Citations in the biomedical literature:

Dysspondyloenchondromatosis		20p12.3 microdeletion syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Del(20)(p12.3) - Monosomy 20p12.3

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

	External references: No OMIM references No MeSH references		External references: No OMIM references No MeSH references


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability - Short stature / dwarfism / nanism

Dysspondyloenchondromatosis		20p12.3 microdeletion syndrome
	Very frequent - Anomalies of cartilages, joints and periarticular tissue - Anomalies of spine, vertebrae and pelvis - Autosomal recessive inheritance - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Exostoses - Joint / articular deformation - Lower limb asymmetry / hemiatrophy / hemihypertrophy - Scoliosis - 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 - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Intracranial / cerebral calcifications		Very frequent - Hypertelorism - Insterstitial / subtelomeric microdeletion / deletion Frequent - Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Epicanthic folds - Flat cheek bones / malar hypoplasia - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Macrocephaly / macrocrania / megalocephaly / megacephaly - Microstomia / little mouth Occasional - Atrial septal defect / interauricular communication - Broad cheeks / cherub-like / cherubin face - Broad nasal root - Broad nose / nasal bridge - Broad / bifid big toe - Broad / bifid thumb - Dilated cerebral ventricles without hydrocephaly - Helix thickened / sculpted - Hypotonia - Long philtrum - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Pectus carinatum - Seizures / epilepsy / absences / spasms / status epilepticus