Eiken syndrome
MONDO:0010803
Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family.
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Eiken syndrome
Eiken syndrome, also known as Eiken skeletal dysplasia, is a rare autosomal bone dysplasia with a skeletal phenotype which has been described in a unique consanguineous family, where it segregates as a recessive trait. First described in 1985, the syndrome primarily affects the development of bones, leading to short stature, long limbs, and joint dislocations. Eiken syndrome is caused by mutations in the PTH1R gene, located on chromosome 3, and is involved in skeletal development.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.