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Occipital horn syndrome
rareOccipital 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.
- Identifiers
- MONDO:0010572 OMIM:304150Orphanet:198
- Causal genes
- ATP7A
- Part of
- Developmental anomaly of metabolic originDisorder of copper metabolismInherited cutis laxaMultiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
- Also known as
- cutis laxa X-linked · cutis laxa, X-linked · EDS IX (formerly) · EDS9 · Ehlers-Danlos syndrome, occipital horn type
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