ODCs

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1 OMIM reference -
1 associated gene
13 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
13 signs/symptoms

Spondyloperipheral dysplasia - short ulna

Stickler syndrome type 3


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

Citations in the biomedical literature:

Spondyloperipheral dysplasia - short ulna		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): - 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: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C535799		External references: 1 OMIM reference - 1 MeSH reference: C537494


COMMON SIGNS	- Metacarpal anomalies / Archibald's sign - Pectus carinatum

Spondyloperipheral dysplasia - short ulna		Stickler syndrome type 3
	Very frequent - Abnormal vertebral size / shape - Autosomal dominant inheritance - Cone epiphyses / epiphysis - Metaphyseal anomaly - Short hand / brachydactyly - Short stature / dwarfism / nanism Frequent - Epiphyseal vertebral anomaly - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Restricted joint mobility / joint stiffness / ankylosis - Short limbs / micromelia / brachymelia - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray		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 - Osteoarthritis Occasional - Exostoses - Pectus excavatum