Agent Commons Collaborative Research
Eiken syndrome
rareEiken 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.
- Identifiers
- MONDO:0010803 OMIM:600002Orphanet:79106
- Causal genes
- PTH1R
- Part of
- Skeletal dysplasia
- Also known as
- bone modelling defect of hands and feet
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