occipital horn syndrome

A metal metabolism disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, abnormal copper transport, and multiple skeletal abnormalities that has_material_basis_in X-linked recessive inher

A metal metabolism disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, abnormal copper transport, and multiple skeletal abnormalities that has_material_basis_in X-linked recessive inheritance of mutations in ATP7A on Xq21.1. This disorder is allelic to Menkes disease.

Signs and symptoms

• Bladder diverticulum
• Hyperextensible skin
• Global developmental delay
• Decreased circulating copper concentration
• Growth delay
• Pili torti
• Decreased circulating ceruloplasmin concentration
• Seizure
• Exostoses
• Chronic diarrhea

Also known as: EDS IX; Ehlers-Danlos syndrome type 9; Ehlers-Danlos syndrome type IX; X-linked cutis laxa