ODCs

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1 OMIM reference -
1 associated gene
13 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 5

1 OMIM reference -
1 associated gene
26 signs/symptoms

Spondyloperipheral dysplasia - short ulna

Spondyloepiphyseal dysplasia congenita

Citations in the biomedical literature:

Spondyloperipheral dysplasia - short ulna		Spondyloepiphyseal dysplasia congenita
	Synonym(s): (no synonyms)		Synonym(s): - Congenital spondyloepiphyseal dysplasia - SEDC - Spranger-Wiedemann disease

	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: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown 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 - No MeSH references


COMMON SIGNS	- Abnormal vertebral size / shape - Autosomal dominant inheritance - Restricted joint mobility / joint stiffness / ankylosis - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism

Spondyloperipheral dysplasia - short ulna		Spondyloepiphyseal dysplasia congenita
	Very frequent - Cone epiphyses / epiphysis - Metacarpal anomalies / Archibald's sign - Metaphyseal anomaly - Short hand / brachydactyly Frequent - Epiphyseal vertebral anomaly - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray Occasional - Pectus carinatum		Very frequent - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Epiphyseal anomaly - Narrow rib cage / thorax - Short neck - Short rib cage / thorax Frequent - Broad forehead - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Flat face - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypertelorism - Lordosis - Osteoarthritis - Talipes-varus / metatarsal varus Occasional - Cataract / lens opacification - Glaucoma - Hearing loss / hypoacusia / deafness - Kyphosis - Myopia - Nystagmus - Retinal detachment - Scoliosis