Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation

Am J Med Genet. 1989 Dec;34(4):593-600. doi: 10.1002/ajmg.1320340429.


We report on two male and two female relatives with intestinal lymphangiectasia; severe lymphedema of limbs, genitalia, and face; facial anomalies; seizures; mild growth retardation; and moderate mental retardation. Main facial anomalies are a flat face, flat nasal bridge, hypertelorism, small mouth, tooth anomalies, and ear defects. Their parents are consanguineous. This disorder probably is an hitherto undescribed autosomal recessive syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Child
  • Child, Preschool
  • Consanguinity
  • Face / abnormalities*
  • Female
  • Genes, Recessive*
  • Humans
  • Intellectual Disability / complications
  • Intellectual Disability / genetics*
  • Lymphangiectasis, Intestinal / complications
  • Lymphangiectasis, Intestinal / genetics*
  • Lymphangiectasis, Intestinal / pathology
  • Lymphedema / complications
  • Lymphedema / genetics*
  • Male
  • Pedigree
  • Protein-Losing Enteropathies / genetics*