Occipital horn syndrome

Andrew Murphy and Dr Yi-Jin Kuok et al.

Occipital horn syndrome is a rare X-linked disorder of copper metabolism resulting in connective tissue abnormalities. Menkes disease is the severe form of this disease, with patients rarely surviving past 3 years of age. Occipital horn syndrome (also known as X-linked cutis laxa or Ehlers Danlos type IX) could be considered a forme fruste of this disease.

The occipital horn syndrome has been reported in 200 families worldwide.

Both conditions are caused by mutations of the ATP7A gene located on the X chromosome which results in the abnormal metabolism and distribution of copper. Copper-containing enzymes are required for the formation of proteins.

Menkes kinky hair syndrome, the severe form of this disease is characterized by frizzy hair, failure to thrive, nervous system abnormalities, and death before the age of 3.

Article information

rID: 14998
Section: Syndromes
Synonyms or Alternate Spellings:
  • X-linked cutis laxa
  • Ehlers Danlos type IX

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Cases and figures

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