ODCs

Click node...

1 OMIM reference -
1 associated gene
25 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 8

1 OMIM reference -
1 associated gene
11 signs/symptoms

Spondyloepimetaphyseal dysplasia congenita, Strudwick type

Spondylometaphyseal dysplasia, Schmidt type

Citations in the biomedical literature:

Spondyloepimetaphyseal dysplasia congenita, Strudwick type		Spondylometaphyseal dysplasia, Schmidt type
	Synonym(s): (no synonyms)		Synonym(s): - Spondylometaphyseal dysplasia with severe genu valgum - Spondylometaphyseal dysplasia, Algerian 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: <1 / 1 000 000 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 - Genu valgum - Kyphosis - Metaphyseal anomaly - Myopia - Scoliosis - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism

Spondyloepimetaphyseal dysplasia congenita, Strudwick type		Spondylometaphyseal dysplasia, Schmidt type
	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 - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypertelorism - Osteoarthritis - Retinal detachment Occasional - Genu varum - Odontoid hypoplasia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Talipes-varus / metatarsal varus		Frequent - Abnormal vertebral size / shape - Joint / articular deformation - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality