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Occipital horn syndrome

MONDO:0010572

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.

Also known as: occipital horn syndrome, occipital horn syndrome, X-linked recessive, EDS IX (formerly), EDS IX, formerly, EDS9, EDS9, formerly, Ehlers-Danlos syndrome, occipital horn type, Ehlers-Danlos syndrome, occipital horn type (formerly)

1 clinical trial for this condition and its sub-types.

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Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Inborn errors of metabolism (45) Cutis laxa (37) Human disease (14) Developmental defect during embryogenesis (8) Disease of genetic or genomic mechanism (2) Multiple congenital anomalies/dysmorphic syndrome (1) Developmental anomaly of metabolic origin (0)
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  • Could a blood pressure drug improve daily life for rare disease survivors?

    Symptom relief Completed

    This study tested whether the drug Northera (droxidopa) is safe and helpful for adults with Menkes disease or Occipital Horn Syndrome who have trouble with low blood pressure and other symptoms of dysautonomia. Three participants took either the drug or a placebo in a crossover d…

    Phase: PHASE1, PHASE2 • Sponsor: Stephen G. Kaler, MD • Aim: Symptom relief

    Last updated Jun 27, 2026 12:07 UTC

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