MeSH Browser

MeSH Supplementary: Occipital horn syndrome
Unique ID: C537860
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537860
Entry Term(s): Cutis Laxa, X-Linked; Cutis laxa X-linked; EDS IX; Ehlers-Danlos syndrome, occipital horn type; Ehlers-Danlos syndrome, occipital horn type (formerly)
Heading Mapped to: *Cutis Laxa; *Ehlers-Danlos Syndrome
Frequency: 18
Note: 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 of Entry: 2010/08/25
Revision Date: 2019/06/24

Occipital horn syndrome MeSH Supplementary Concept Data 2024