Fraser syndrome: A clinical study of 59 cases and evaluation of diagnostic criteria

Mieke M. Van Haelst, Peter J. Scambler, Raoul C.M. Hennekam, Lihadt Al-Gazali, Perez Aytes, Arianna Bonato, David Chitayat, Angus Dobbie, Dian Donnai, Frances Elmslie, Jose Ferreira, Christine Francannet, Brigitte Gilbert, John Graham, Raoul Hennekam, Sue Holder, Bronwyn Kerr, Saskia Maas, Andre Megarbane, Peter MeineckeSerge Melancon, Alina Midro, John Nelson, Nicole Philip, Willie Reardon, Heiko Reutter, Heloise Santos, Peter Scambler, Christel Thauvin, Eva Todos, John Tolmie, Ton Van Essen, Andrew Wilkie, Louise Wilson

Research output: Contribution to journalArticlepeer-review

77 Citations (Scopus)


Fraser syndrome is an autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, syndactyly, and urogenital defects. We studied the clinical features in 59 affected individuals from 40 families (25 consanguineous), and compared our findings to data from previous reviews. We found a higher frequency of abnormalities of the skull, larynx, umbilicus, urinary tract, and anus in our series of patients, and mental retardation and cleft lip with or without cleft palate were observed less frequently than previously reported. Clinical features in probands and sibs were remarkably similar. As can be expected prenatally diagnosed patients had more manifestations that gave rise to a pathological amount of amniotic fluid. Otherwise patients diagnosed before and after birth had similar frequencies of symptoms. Based on the present results we suggest an adaptation of diagnostic criteria for FS, including adding airway tract and urinary tract anomalies as major criteria. The specificity of the proposed diagnostic criteria was evaluated using the London Medical Database as a search tool.

Original languageEnglish
Pages (from-to)3194-3203
Number of pages10
JournalAmerican Journal of Medical Genetics, Part A
Issue number24
Publication statusPublished - Dec 15 2007
Externally publishedYes


  • Cryptophthalmos
  • Fraser syndrome
  • Revised diagnostic criteria

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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