Fraser syndrome

Methodius G. Tuuli, Anthony O. Odibo

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

2 Scopus citations


Fraser syndrome is a rare congenital malformation syndrome characterized by cryptophthalmos, syndactyly, and urogenital defect. It has been proposed that diagnosis be based on two major and one minor criteria or one major and four minor criteria. Prenatal diagnosis often relies on detection of some of the more easily detectable minor criteria, such as renal agenesis and laryngeal atresia, together with a family history. Cryptophthalmos is the most important diagnostic feature of Fraser syndrome and has been described in 90% of affected patients. Mutations in the FRAS1 and FREM2 genes have been implicated in the etiology of Fraser syndrome, together with an underlying defect of apoptosis. Prognosis is poor and dependent on the predominant anomalies. Termination of pregnancy may be recommended when diagnosis is made early, especially in the setting of renal agenesis or laryngeal atresia.

Original languageEnglish
Title of host publicationObstetric Imaging
Subtitle of host publicationFetal Diagnosis and Care, 2nd Edition
ISBN (Electronic)9780323445481
StatePublished - Jan 1 2017


  • Cryptophthalmos
  • Fraser syndrome
  • Renal agenesis
  • Syndactyly
  • Urogenital defects


Dive into the research topics of 'Fraser syndrome'. Together they form a unique fingerprint.

Cite this