/occipital horn syndrome

occipital horn syndrome

Rare Disease

MONDO:0010572

Also Known As

EDS IXEhlers-Danlos syndrome type 9Ehlers-Danlos syndrome type IXX-linked cutis laxaoccipital horn syndromeoccipital horn syndrome, X-linked recessiveEDS IX (formerly)EDS IX, formerlyEDS9EDS9, formerlyEhlers-Danlos syndrome, occipital horn typeEhlers-Danlos syndrome, occipital horn type (formerly)Ehlers-Danlos syndrome, occipital horn type, formerlyOHScutis laxa X-linkedcutis laxa, X-linkedcutis laxa, X-linked, formerly

Definition

Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.