Eiken syndrome
A rare genetic primary bone dysplasia syndrome characterized by multiple epiphyseal dysplasia severely delayed ossification (mainly of the epiphyses pubic symphysis hands and feet) abnormal modeling of the bones in hands and feet abnormal pelvis cartilage persistence and mild growth retardation. Calcium phosphate and vitamin D serum levels are typically within normal range while parathyroid hormone serum levels are normal to slighly elevated. Oligodontia has been rarely associated.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Eiken syndrome?
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Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Clinical Trials
For a list of clinical trials in this disease area, please click here.