Brachytelephalangic chondrodysplasia punctata

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Brachytelephalangic chondrodysplasia punctata

Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of non-rhizomelic chondrodysplasia punctata a primary bone dysplasia characterized by hypoplasia of the distal phalanges of the fingers nasal hypoplasia epiphyseal stippling appearing in the first year of life as well as mild and non-rhizomelic shortness of the long bones.

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: // Data version September 2023.

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Brachytelephalangic chondrodysplasia punctata?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

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