ODCs

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1 OMIM reference -
1 associated gene
13 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

1 OMIM reference -
1 associated gene
12 signs/symptoms

Stickler syndrome type 3

Spondylocarpotarsal synostosis


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL11A2	(0.63)	FLNB

Citations in the biomedical literature:

Stickler syndrome type 3		Spondylocarpotarsal synostosis
	Synonym(s): - Stickler syndrome, nonocular type		Synonym(s): - Synspondylism

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic 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: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Pectus excavatum - Sensorineural deafness / hearing loss

Stickler syndrome type 3		Spondylocarpotarsal synostosis
	Very frequent - Articular / joint pain / arthralgia - Flat cheek bones / malar hypoplasia - Long philtrum - Mid-facial hypoplasia / short / small midface Frequent - Glossoptosis - Micrognathia / retrognathia / micrognathism / retrognathism - Osteoarthritis Occasional - Exostoses - Metacarpal anomalies / Archibald's sign - Pectus carinatum		Very frequent - Abnormal vertebral size / shape - Autosomal recessive inheritance - Carpal bones fusion / synostosis - Lordosis - Restricted joint mobility / joint stiffness / ankylosis - Short rib cage / thorax - Vertebral segmentation anomaly / hemivertebrae Occasional - Conductive deafness / hearing loss - Polycystic kidneys