Further delineation of the acro-renal-ocular syndrome

Am J Med Genet. 1996 Mar 29;62(3):276-81. doi: 10.1002/(SICI)1096-8628(19960329)62:3<276::AID-AJMG14>3.0.CO;2-H.


A triad of acral, renal, and ocular abnormalities was reported previously in four families. We report on a fifth family, in which a mother, one of her four sons and one of her two daughters are affected. Major findings in the acro-renal-ocular syndrome are upper limb abnormalities, mainly thumb hypoplasia, eye abnormalities such as coloboma and Duane anomaly and renal migration defects. A close embryological-temporal relationship between the traits of this entity suggest a common monogenic cause. The pattern of inheritance is probably autosomal dominant. Because of a wide variability of clinical manifestations, recognition of the syndrome in individual cases may be difficult.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Eye Abnormalities / complications*
  • Female
  • Hand Deformities, Congenital / complications*
  • Hand Deformities, Congenital / pathology
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Uterus / abnormalities*