Ablepharon-Macrostomia syndrome--extension of the phenotype

Am J Med Genet A. 2011 Dec;155A(12):3060-2. doi: 10.1002/ajmg.a.34287. Epub 2011 Oct 14.


Ablepharon-Macrostomia syndrome (AMS) is a rare collection of findings characterized by absent or hypoplastic eyelids, fusion defects of the mouth with unfused lateral commissures, abnormal ears, ambiguous genitalia, skin differences including dry and coarse skin or redundant folds of skin, and developmental delay. Fewer than 20 patients have been reported to date. These include a parent and two children and a recent report of a father and daughter, therefore suggesting autosomal dominant inheritance. Here we present one additional sporadic case with an expanded phenotype. This patient has more significant hand and foot anomalies than previously reported.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Eye Abnormalities / diagnosis*
  • Facies
  • Female
  • Humans
  • Infant, Newborn
  • Macrostomia / diagnosis*
  • Phenotype*

Supplementary concepts

  • Ablepharon macrostomia syndrome