Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Eiken syndrome

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.


Bone dysplasia
Acrocapitofemoral dysplasia
Antley-Bixler syndrome 1
Antley-Bixler syndrome 2
Apert syndrome
Chondrodysplasia of Blomstrand type
Chondrodysplasia, Grebe type
Crouzon syndrome
Eiken syndrome
Failure of tooth eruption
McCune-Albright syndrom
Metaphyseal chondrodysplasia of Murk Jansen type
Muenke syndrome
Osteofibrous dysplasia
Osteopathia striata with cranial sclerosis
Schimke Immunoosseous dysplasia
Thanatophoric dysplasia 1
Thanatophoric dysplasia 2



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.

Update: Sept. 26, 2018