ODCs

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1 OMIM reference -
1 associated gene
26 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 5

1 OMIM reference -
1 associated gene
10 signs/symptoms

Spondyloepiphyseal dysplasia congenita

Multiple epiphyseal dysplasia, Beighton type

Citations in the biomedical literature:

Spondyloepiphyseal dysplasia congenita		Multiple epiphyseal dysplasia, Beighton type
	Synonym(s): - Congenital spondyloepiphyseal dysplasia - SEDC - Spranger-Wiedemann disease		Synonym(s): - Multiple epiphyseal dysplasia - myopia - deafness

	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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown 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: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references


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

Spondyloepiphyseal dysplasia congenita		Multiple epiphyseal dysplasia, Beighton type
	Very frequent - Abnormal vertebral size / shape - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Narrow rib cage / thorax - Short limbs / micromelia / brachymelia - Short neck - Short rib cage / thorax - Short stature / dwarfism / nanism Frequent - Broad forehead - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypertelorism - Lordosis - Osteoarthritis - Restricted joint mobility / joint stiffness / ankylosis - Talipes-varus / metatarsal varus Occasional - Glaucoma - Hearing loss / hypoacusia / deafness - Kyphosis - Nystagmus - Retinal detachment - Scoliosis		Very frequent - Absent / small fingernails / anonychia of hands - Conductive deafness / hearing loss - Microstomia / little mouth - Round face - Short hand / brachydactyly