ODCs

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2 OMIM references -
1 associated gene
22 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 4

1 OMIM reference -
1 associated gene
10 signs/symptoms

Stickler syndrome type 1

Multiple epiphyseal dysplasia, Beighton type

Citations in the biomedical literature:

Stickler syndrome type 1		Multiple epiphyseal dysplasia, Beighton type
	Synonym(s): (no synonyms)		Synonym(s): - Multiple epiphyseal dysplasia - myopia - deafness

	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 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: - Average age of death: - Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Autosomal dominant inheritance - Cataract / lens opacification - Epiphyseal anomaly - Myopia

Stickler syndrome type 1		Multiple epiphyseal dysplasia, Beighton type
	Very frequent - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Long philtrum - Retinal detachment - Short / small nose - Vitreous anomalies / hyalitis / persistent vitreous vascularisation Frequent - Articular / joint pain / arthralgia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Epiphyseal vertebral anomaly - Hyperextensible joints / articular hyperlaxity - Marfanoid morphotype - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Osteoarthritis - Platyspondyly - Proptosis / exophthalmos - Sensorineural deafness / hearing loss Occasional - Intellectual deficit / mental / psychomotor retardation / learning disability - Visual loss / blindness / amblyopia		Very frequent - Absent / small fingernails / anonychia of hands - Conductive deafness / hearing loss - Flat face - Microstomia / little mouth - Round face - Short hand / brachydactyly