Occipital horn syndrome

Dr Henry Knipe and Dr Yi-Jin Kuok et al.

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.

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.

Share article

Article information

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

Support Radiopaedia and see fewer ads

Cases and figures

  • Drag
    Case 1
    Drag here to reorder.
  • Drag
    Case 1
    Drag here to reorder.
  • Drag
    just like a T2 gr...
    Case 1
    Drag here to reorder.
  • Drag
    Case 1
    Drag here to reorder.
  • Updating… Please wait.
    Loadinganimation

    Alert accept

    Error Unable to process the form. Check for errors and try again.

    Alert accept Thank you for updating your details.