Lymphedema distichiasis syndrome I89.0 + Q10.3

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.

1. Kanaan IN et al (2006) Type I congenital multiple intraspinal extradural cysts associated with distichiasis and lymphedema syndrome. Surg Neurol 65:162-166
2. Neel JV, School W (1954) Human Heredity. Univ. of Chicago Press, Chicago, pp. 50-51
3. 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