Eiken syndrome

Definition

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.

Also known as Eiken syndrome — per MONDO

Also identified as

• DOID 0111732 per MONDO
• MESH C564010 per MONDO
• OMIM 600002 per MONDO
• Orphanet 79106 per MONDO
• SCTID 720863002 per MONDO
• UMLS C1838779 per MONDO