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Dysspondyloenchondromatosis

1 associated gene
22 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Stickler syndrome type 3

1 OMIM reference -
1 associated gene
13 signs/symptoms

Dysspondyloenchondromatosis

Stickler syndrome type 3

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

Dysspondyloenchondromatosis		Stickler syndrome type 3
	Synonym(s): (no synonyms)		Synonym(s): - Stickler syndrome, nonocular type

	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 - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic 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: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537494


COMMON SIGNS	- Exostoses - Osteoarthritis

Dysspondyloenchondromatosis		Stickler syndrome type 3
	Very frequent - Anomalies of cartilages, joints and periarticular tissue - Anomalies of spine, vertebrae and pelvis - Autosomal recessive inheritance - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - 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 - 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 - Intellectual deficit / mental / psychomotor retardation / learning disability - Intracranial / cerebral calcifications		Very frequent - Articular / joint pain / arthralgia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Flat cheek bones / malar hypoplasia - Long philtrum - Mid-facial hypoplasia / short / small midface - Sensorineural deafness / hearing loss Frequent - Glossoptosis - Micrognathia / retrognathia / micrognathism / retrognathism Occasional - Metacarpal anomalies / Archibald's sign - Pectus carinatum - Pectus excavatum