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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.

Systematic

Bone dysplasia
Achondroplasia
Achondroplasia-SCID syndrome
Acrocapitofemoral dysplasia
Antley-Bixler syndrome 1
Antley-Bixler syndrome 2
Apert syndrome
Cherubism
Chondrodysplasia of Blomstrand type
Chondrodysplasia, Grebe type
Crouzon syndrome
Eiken syndrome
PTH1R
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

References:

1.

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.

external link
2.

Duchatelet S et al. (2005) Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes.

external link
3.

Orphanet article

Orphanet ID 79106 external link
4.

OMIM.ORG article

Omim 600002 external link
5.

Wikipedia article

Wikipedia EN (Eiken_syndrome) external link
Update: Aug. 14, 2020
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