Occipital horn syndrome

Occipital horn syndrome is a rare X-linked disorder of copper metabolism resulting in connective tissue abnormalities. The Menkes kinky hair syndrome 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 X chromosome which results in the abnormal metabolism and distribution of copper. Copper containing enzymes are required for the formation of proteins.

Features - Menkes - kinky hair syndrome

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

Features - Occipital horn syndrome
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Article Information

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

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