Occipital horn syndrome [Supplementary Concept]
A rare X-linked recessive connective tissue disorder characterized by hyperelastic and bruisable skin, HERNIAS, bladder diverticula, hyperextensible joints, varicosities, and multiple skeletal abnormalities. The disorder is sometimes accompanied by mild neurologic impairment, and bony abnormalities of the OCCIPITAL BONE are a common feature. Mutations in the ATP7A gene have been identified. OMIM: 304150
Date introduced: August 25, 2010
MeSH Unique ID: C537860
Heading Mapped to:
Entry Terms:
- Cutis laxa X-linked
- Ehlers-Danlos syndrome, occipital horn type (formerly)
- Cutis Laxa, X-Linked
- Ehlers-Danlos syndrome, occipital horn type
- EDS IX