Eiken syndrome is an autosomal recessive disorder caused by mutations of the PTHR1 gene. It is characterized by delayed epiphyseal ossification which leads to malformation of hands and feet in particular.
Eiken M et al. (1984) A new familial skeletal dysplasia with severely retarded ossification and abnormal modeling of bones especially of the epiphyses, the hands, and feet.[^]
Duchatelet S et al. (2005) Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes.[^]
Orphanet articleOrphanet ID 79106 [^]
OMIM.ORG articleOmim 600002 [^]
Wikipedia articleWikipedia EN (Eiken_syndrome) [^]