Fibular aplasia-complex brachydactyly syndrome
Synonyms: Du Pan syndrome
A rare syndrome characterised by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (GDF5).
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 September 2023.
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Fibular aplasia-complex brachydactyly syndrome?
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Advocacy Organizations
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.
Clinical Trials
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