Occipital horn syndrome, also known as X-linked cutis laxa or Ehlers Danlos type IX, 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 could be considered a forme fruste of this disease.
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Epidemiology
The occipital horn syndrome has been reported in 200 families worldwide.
Pathology
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 disease / kinky hair syndrome
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 years.
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 diarrhea
- bladder diverticulum
- developmental delay
- intellectual disability of varying severity
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