Syndrome of lymphoedema and distichiasis.
A family of ten members in three generations who were affected by lymphoedema with or without distichiasis (extra rows of eyelashes) was observed. This combination of symptoms can be presumed to represent a rare but well-defined hereditary syndrome transmitted by an autosomal dominant gene. Some years ago the published pedigrees of congenital hereditary lymphoedema were reviewed and analysed genetically by Esterly (1965). Recently papers have been published on the association of lymphostasis with congenital distichiasis (Falls and Kertesz, 1964; Robinow et al., 1970; Jester, 1977). We report here a family with ten members in three generations affected by lymphoedema with or without distichiasis.
D000293:Adolescent; D001763:Blepharoptosis / Q000235:genetics; D005140:Eyelashes / Q000002:abnormalities*; D005799:Genes, Dominant; D006801:Humans; D008209:Lymphedema / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome