Blepharophimosis: A causally heterogeneous malformation frequently associated with developmental disabilities

Christopher Cunniff, Mary Curtis, Susan J. Hassed, H. Eugene Hoyme

Research output: Contribution to journalArticlepeer-review

24 Scopus citations


We report on 22 individuals referred for genetic evaluation because of blepharophimosis. Fourteen of these patients had the blepharophimosis syndrome: 5 familial and 9 sporadic. Mental retardation or developmental delay was seen in 8 of the 12 children in whom this could be assessed. Eight of 22 children had a malformation syndrome other than the blepharophimosis syndrome. All 8 of these children were mentally retarded or developmentally delayed. Two of these 8 had recognized disorders (branchio-oto-renal syndrome and a ring 4 chromosome); the remaining 6 had unrecognized malformation syndromes. Based on this information, it is suggested that children with blepharophimosis be evaluated carefully for underlying conditions and that they be observed for developmental disabilities because of the frequent association.

Original languageEnglish (US)
Pages (from-to)52-54
Number of pages3
JournalAmerican journal of medical genetics
Issue number1
StatePublished - Jan 6 1998


  • Blepharophimosis
  • Blepharophimosis syndrome
  • Developmental delay
  • Mental retardation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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