ODCs

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1 OMIM reference -
1 associated gene
12 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 8

1 OMIM reference -
1 associated gene
25 signs/symptoms

Spondyloepimetaphyseal dysplasia, Missouri type

Spondyloepimetaphyseal dysplasia congenita, Strudwick type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MMP13	(0.52)	COL2A1

Citations in the biomedical literature:

Spondyloepimetaphyseal dysplasia, Missouri type		Spondyloepimetaphyseal dysplasia congenita, Strudwick type
	Synonym(s): - SEMD type 2 - SEMD, Missouri type - Spondyloepimetaphyseal dysplasia type 2		Synonym(s): (no synonyms)

	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 - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Epiphyseal anomaly - Genu varum - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Metaphyseal anomaly - Osteoarthritis - Short stature / dwarfism / nanism

Spondyloepimetaphyseal dysplasia, Missouri type		Spondyloepimetaphyseal dysplasia congenita, Strudwick type
	Very frequent - Abnormal vertebral size / shape - Bowed diaphysis / diaphyses / long bones Frequent - Rhizomelic micromelia Occasional - Restricted joint mobility / joint stiffness / ankylosis		Very frequent - Lordosis - Platyspondyly - Short limbs / micromelia / brachymelia - 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 - Hypertelorism - Kyphosis - Myopia - Retinal detachment Occasional - Odontoid hypoplasia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Scoliosis - Talipes-varus / metatarsal varus