Learn About Occipital Horn Syndrome

What is the definition of Occipital Horn Syndrome?
Occipital horn syndrome (OHS) is a genetic condition that affects the connective tissue, skeleton, and nervous system. They may include wedge-shaped calcium deposits at the base of the skull (occipital horns), loose skin and joints, and dysfunction of the nerves that regulate nonvoluntary body functions (dysautonomia). Other symptoms may include bladder diverticula, coarse hair, low muscle tone, and mild intellectual disability. This condition is a milder form of Menkes disease, which affects copper levels in the body. OHS is caused by genetic changes (DNA variants) in the ATP7A gene, and it is inherited in an x-linked recessive pattern. It can be diagnosed based on the symptoms, genetic testing, and other blood tests.
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What are the alternative names for Occipital Horn Syndrome?
  • Occipital horn syndrome
  • Cutis laxa X-linked
  • EDS IX (formerly)
  • Ehlers-Danlos syndrome, occipital horn type (formerly)
  • OHS
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What are the latest Occipital Horn Syndrome Clinical Trials?
Phase I/II Study of NORTHERA (DROXIDOPA) for Dysautonomia in Adult Survivors of Menkes Disease and Adults With Occipital Horn Syndrome: Double-blind Placebo-controlled Randomized Crossover Clinical Trial

Summary: The purpose of this study is to evaluate whether Northera (Droxidopa) is safe and effective in young adults with Menkes disease who survived the most severe complications of their illness or adults with occipital horn syndrome (OHS), who have trouble with intermittent low blood pressure and other symptoms of dysautonomia. The outcomes and information from this study may help adult survivors of Men...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center