Lymphedema-Distichiasis Syndrome

Alternative Names

  • Lymphedema with Distichiasis
  • Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

153400

Mode of Inheritance

Autosomal dominant

Gene Map Locus

16q24.1

Description

Lymphedema-distichiasis syndrome is a rare genetic multisystem disorder, characterized by lower-limb lymphedema and distichiasis with occasional associated manifestations, including varicose veins, ptosis, heart abnormalities, and cleft palate.  Aberrant eyelashes present at birth ranging from a full set of extra eyelashes to a single hair.  The age of onset of lymphedema typically begins in late childhood or puberty.  The condition is confined to the lower limbs, and is often asymmetric, with severity varying within families.  About 25% of affected individuals are asymptomatic. 

Lymphedema-distichiasis syndrome is inherited in an autosomal dominant pattern and is caused by mutations of the FOXC2 gene.  This gene encodes a transcription factor protein, which has a role in a variety of developmental processes, such as the formation of veins and the development of the lungs, eyes, kidneys and urinary tract, cardiovascular system, and the lymphatic vessels.

Epidemiology in the Arab World

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Other Reports

Lebanon

Shammas et al. (1979) described ten patients from two families with congenital distichiasis and lymphedema of the lower limbs, pterygium colli, and congenital ptosis. 

Saudi Arabia

Kanaan et al. (2006) described a 12-year-old Saudi boy with lymphedema-distichiasis syndrome, who had progressive weakness of the lower extremities and unsteady gait leading to frequent falls.  He had double row of eyelashes (bilaterally).  The patient underwent a laminotomy and complete microsurgical excision of two large spinal cysts that resulted in a fast and full clinical recovery of his neurological symptoms.

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