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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
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The Chandler Project
The Chandler Project (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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