ODCs

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1 OMIM reference -
1 associated gene
8 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 4

2 OMIM references -
4 associated genes
17 signs/symptoms

Stickler syndrome type 2

Autosomal recessive Stickler syndrome

Citations in the biomedical literature:

Stickler syndrome type 2		Autosomal recessive Stickler syndrome

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

	External references: 1 OMIM reference - 1 MeSH reference: C537493		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Myopia - Retinopathy - Sensorineural deafness / hearing loss - Vitreous anomalies / hyalitis / persistent vitreous vascularisation

Stickler syndrome type 2		Autosomal recessive Stickler syndrome
	Very frequent - Cataract / lens opacification - Corneal clouding / opacity / vascularisation - Retinal detachment Frequent - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula		Very frequent - Autosomal recessive inheritance - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Flat face - Genu valgum - Short stature / dwarfism / nanism Frequent - Abnormal vertebral size / shape - Astigmatism - Epiphyseal anomaly - Hyperextensible joints / articular hyperlaxity - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Platyspondyly - Retinitis pigmentosa / retinal pigmentary changes - Visual loss / blindness / amblyopia