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Eiken syndrome; Eiken skeletal dysplasia; bone modeling defect of hands & feet
Epidemiology: rare
Pathology: skeletal dysplasia
Genetics:
- autosomal recessive
- associated with defects in PTHR1
Clinical manifestations:
- multiple epiphyseal dysplasia
- extremely retarded ossification, principally of the epiphyses, pelvis, hands & feet
- abnormal modeling of the bones in hands & feet
- abnormal persistence of cartilage in the pelvis
- mild growth retardation
General
genetic syndrome (multisystem disorder)
skeletal dysplasia
Database Correlations
OMIM 600002
References
UniProt :accession Q03431