Fryns syndrome with Hirschsprung disease: Support for possible neural crest involvement

Fowzan S. Alkuraya*, Angela E. Lin, Mira B. Irons, Virginia E. Kimonis

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

9 Scopus citations


Fryns syndrome is an autosomal recessive multiple congenital anomaly/mental retardation syndrome characterized by coarse face, distal limb hypoplasia, and diaphragmatic anomalies. We describe a newborn girl with Fryns syndrome and Hirschsprung disease, an association that has been reported in five previous cases. These patients support the hypothesis that the neural crest plays a role in the pathogenesis of Fryns syndrome. Clinically asymptomatic or subtle anomalies that are in the spectrum of neural crest maldevelopment should be sought in all patients with Fryns syndrome including stillbirths, neonatal deaths, as well as long-term survivors. We suspect that the clinical observation about Hirschsprung disease and Fryns syndrome may provide insight into its molecular mechanisms and candidate genes.

Original languageEnglish (US)
Pages (from-to)226-230
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume132 A
Issue number2
StatePublished - Jan 15 2005
Externally publishedYes


  • Congenital diaphragmatic hernia
  • Fryns syndrome
  • Hirschsprung disease
  • Megaureter
  • Neural crest
  • Neurocristopathy
  • Polyhydramnios

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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