Orphanet: Occipital horn syndrome

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Occipital horn syndrome

Disease definition

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.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: All ages
  • ICD-10: E83.0
  • OMIM: 304150
  • UMLS: C0268353  C1096660
  • MeSH: C537860
  • GARD: 4017
  • MedDRA: -

Detailed information


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