Occipital horn syndrome

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Occipital horn syndrome

A rare congenital disorder of copper metabolism that is principally characterized by bony exostoses (including the pathognomonic occipital horns) and connective tissue manifestations with cutis laxa and bladder diverticula. Central nervous system involvement is variable.

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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Occipital horn syndrome?

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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

For a list of clinical trials in this disease area, please click here.