MeSH Browser

MeSH Supplementary: Lymphedema distichiasis syndrome
Unique ID: C537710
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537710
Entry Term(s): Hereditary lymphedema-distichiasis syndrome; Lymphedema with distichiasis; Lymphedema-Distichiasis Syndrome
Heading Mapped to: Eyelashes / abnormalities; *Lymphedema
Frequency: 34
Note: An autosomal dominant disorder that presents as lymphedema of the limbs and double rows of eyelashes (distichiasis). Irritation of the CORNEA, with corneal ulceration in some cases, brings the patients to the attention of ophthalmologists. Other complications may include cardiac defects, VARICOSE VEINS, ptosis, spinal extradural cysts, and PHOTOPHOBIA. Mutations in the FOXC2 gene have been identified. OMIM: 153400
Date of Entry: 2010/08/25
Revision Date: 2015/09/26

Lymphedema distichiasis syndrome MeSH Supplementary Concept Data 2024