ODCs

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1 OMIM reference -
1 associated gene
13 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 4

1 OMIM reference -
1 associated gene
25 signs/symptoms

Spondyloperipheral dysplasia - short ulna

Spondyloepimetaphyseal dysplasia congenita, Strudwick type

Citations in the biomedical literature:

Spondyloperipheral dysplasia - short ulna		Spondyloepimetaphyseal dysplasia congenita, Strudwick 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

	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: 1 OMIM reference - 1 MeSH reference: C535799		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Metaphyseal anomaly - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism

Spondyloperipheral dysplasia - short ulna		Spondyloepimetaphyseal dysplasia congenita, Strudwick type
	Very frequent - Abnormal vertebral size / shape - Cone epiphyses / epiphysis - Metacarpal anomalies / Archibald's sign - Short hand / brachydactyly Frequent - Epiphyseal vertebral anomaly - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Restricted joint mobility / joint stiffness / ankylosis - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray Occasional - Pectus carinatum		Very frequent - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Epiphyseal anomaly - Lordosis - Platyspondyly - Short rib cage / thorax Frequent - Abnormal gait - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Flat face - Genu valgum - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypertelorism - Kyphosis - Myopia - Osteoarthritis - Retinal detachment Occasional - Genu varum - Odontoid hypoplasia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Scoliosis - Talipes-varus / metatarsal varus