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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.
- Synonym(s): -
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: -
- OMIM: 600002
- UMLS: C1838779
- MeSH: -
- GARD: -
- MedDRA: -
A mutation in PTHR1 gene is responsible for this syndrome.
Transmission is autosomal recessive.