GTR Home > Conditions/Phenotypes > Distichiasis-lymphedema syndrome

Disease characteristics

Excerpted from the GeneReview: Lymphedema-Distichiasis Syndrome
Lymphedema-distichiasis syndrome is characterized by lower-limb lymphedema and distichiasis (aberrant eyelashes ranging from a full set of extra eyelashes to a single hair). Lymphedema typically appears in late childhood or puberty, is confined to the lower limbs, and is often asymmetric; severity varies within families. Males develop edema at an earlier age and have more problems with cellulitis than females. Distichiasis, which may be present at birth, is observed in 94% of affected individuals. About 75% of affected individuals have ocular findings including corneal irritation, recurrent conjunctivitis, and photophobia; other common findings include varicose veins, congenital heart disease, and ptosis. About 25% of individuals are asymptomatic.

Available tests

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Associated genes

Clinical features

  • Proteinuria
  • Muscle weakness
  • Irregular heart beat
  • Lymphedema
  • Ventricular septal defect
  • Cataract
  • Cleft palate
  • Recurrent urinary tract infections
  • Renal duplication
  • Cleft upper lip
  • Webbed neck
  • Recurrent corneal erosions
  • Ptosis
  • Conjunctivitis
  • Photophobia
  • Diabetes mellitus
  • Tetralogy of Fallot
  • Patent ductus arteriosus
  • Varicose veins
  • Abnormality of the musculature
  • Predominantly lower limb lymphedema
  • Abnormality of the pulmonary vasculature
  • Distichiasis
  • Sarcoma
  • Glomerulopathy
  • Benign neoplasm of the central nervous system
  • Corneal erosions
  • Skin ulcer
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