PEDIATRICS Vol. 85 No. 4 April 1990, pp. 499-504
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Fryns Syndrome: An Autosomal Recessive Disorder Associated With Craniofacial Anomalies, Diaphragmatic Hernia, and Distal Digital Hypoplasia

Christopher Cunniff MD1, Kenneth Lyons Jones MD1, Howard M. Saal MD1, and Harvey J. Stern MD, PhD1

1 From the Division of Dysmorphology, Department of Pediatrics, University of California, San Diego, and the Division of Clinical Genetics, Department of Pediatrics, Children's Hospital National Medical Center, Washington, DC

Fryns syndrome is an autosomal recessive, genetically determined condition with variable expression, which includes abnormal facial features, diaphragmatic hernia, distal limb abnormalities, and malformations of the cardiovascular, gastrointestinal, genitourinary, and central nervous systems. Five cases of children with Fryns syndrome, including an example of familial recurrence and a case of long-term survival, are described. This report brings to 25 the number of cases reported in the literature and further serves to illustrate the clinical variability of this disorder.

Key Words: Fryns syndrome • congenital diaphragmatic hernia • autosomal recessive inheritance

Submitted on March 14, 1989
Accepted on May 17, 1989




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