ODCs

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1 OMIM reference -
1 associated gene
25 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Spondyloepimetaphyseal dysplasia congenita, Strudwick type

CARASIL


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL2A1	(0.63)	HTRA1

Citations in the biomedical literature:

Spondyloepimetaphyseal dysplasia congenita, Strudwick type		CARASIL
	Synonym(s): (no synonyms)		Synonym(s): - Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy - Maeda syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the circulatory system -

	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: unknown Average age onset: adolescence / young Average age of death: adult Type of inheritance: autosomal recessive

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

Spondyloepimetaphyseal dysplasia congenita, Strudwick type
	Very frequent - Autosomal dominant inheritance - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Epiphyseal anomaly - Lordosis - Metaphyseal anomaly - Platyspondyly - Short limbs / micromelia / brachymelia - Short rib cage / thorax - Short stature / dwarfism / nanism 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
CARASIL
(no data available)