Menkes Disease Occipital Horn Syndrome

Occipital horn syndrome (OHS) is a mild form of Menkes disease, a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect. There is a continuum of severity from Menkes disease to OHS spanning from severe developmental delay, muscular hypotonia, epilepsy, to loose skin (predominantly at the back of the neck), bladder diverticula and vascular tortuosity. Pili torti are characteristic hair abnormalities. Connective tissue abnormalities with various degrees of neurodevelopmental delay represents the mild end of the spectrum. Bone disease with demineralisation, exostosis particularly at the occipital insertion of the paraspinal muscles (hence the name) are characteristic.

No information available from this source.

This disease is not (yet) listed on their website.