Distichiasis-lymphedema syndrome and the Turner phenotype

Two unrelated females with the syndrome of distichiasis-lymphedema are presented. In both families, the autosomal dominant nature of the syndrome was evident, with multiple affected males and females. In the prepubertal period this disease may be confused with Turner or Noonan syndromes. Genetic counseling is important for this is a very crippling disease and an erroneous diagnosis of future sterility may be given to affected females. Ptosis, pterygium colli, lymphedema, cleft palate and a low posterior hairline can confuse the phenotype. A history of corneal irritation, photophobia and a need to self-pluck eyelashes may be the clue to the diagnosis. Close follow-up for associated complications, counseling and support to these families may be our contributions as clinicians in ameliorating the burden this disease brings.