Lymphedema distichiasis syndromeI89.0 + Q10.3
Synonym(s)
Distichiasis and lymphedema syndrome; Distichiasis-Lymphedema Syndrome; Familial Lymphoedema-Distichiasis Syndrome; Hereditary lymphedema distichiasis syndrome; MIM 154300
HistoryThis section has been translated automatically.
Neel and Schull, 1954
DefinitionThis section has been translated automatically.
Systemic disease with lymphedema of the limbs, which becomes evident during or after puberty, malformation of the eyelashes (manifestation of a second row of eyelashes = distichiasis, which grow ectopically out of the anterior ducts of the meibohm glands). Further accompanying defects:
- chronic interstitial nephritis
- Cleft lip and palate
- Eye diseases (early myopia, strabismus, photophobia)
- extradural spinal cysts.
EtiopathogenesisThis section has been translated automatically.
mutation of the FOXC2 gene mapped at locus 16q24.3.
LiteratureThis section has been translated automatically.
- Kanaan IN et al (2006) Type I congenital multiple intraspinal extradural cysts associated with distichiasis and lymphedema syndrome. Surg Neurol 65:162-166
- Neel JV, School W (1954) Human Heredity. Univ. of Chicago Press, Chicago, pp. 50-51
- Yildirim-Toruner C et al (2004) A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus. At J Med Genet A 131: 281-286