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
- bilateral occipital exostoses, hence the name
- tortuous vessels
- long thin face, high forehead
- short clavicles
- pectus excavatum / pectus carinatum
- inguinal herniation
- chronic diarrhoea
- bladder diverticulum
- developmental delay
- mental retardation of varying severity
- 1. Mentzel HJ, Seidel J, Fitzek C et-al. Intracranial and extracranial MR angiography in occipital horn syndrome. Eur Radiol. 2000;10 (10): 1683. Eur Radiol (link) - Pubmed citation
- 2. Tsukahara M, Imaizumi K, Kawai S et-al. Occipital horn syndrome: report of a patient and review of the literature. Clin. Genet. 1994;45 (1): 32-5. - Pubmed citation