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Lymphedema distichiasis syndrome MeSH Supplementary Concept Data 2024


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
Registry Number
0
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 Preferred
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