Ablepharon-Macrostomia syndrome--extension of the phenotype

Staci Kallish, Donna M McDonald-McGinn, Mieke M van Haelst, Scott P Bartlett, James A Katowitz, Elaine H Zackai

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16 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)3060-2
Number of pages3
JournalAmerican Journal of Medical Genetics Part A
Issue number12
Publication statusPublished - Dec 2011


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

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