Fryns syndrome is a condition that affects the development of many parts of the body.

Variants (also called mutations) in the PIGN gene have been found to cause some cases of Fryns syndrome. The PIGN gene provides instructions for making an enzyme called GPI ethanolamine phosphate transferase 1. This enzyme takes part in a series of steps that produce a molecule called a glycophosphatidylinositol (GPI) anchor. The GPI anchor transports many different proteins to the cell membrane, ensuring that these proteins are available when needed.

The exact prevalence of Fryns syndrome is unknown; fewer than 100 individuals with this condition have been reported in the medical literature. Studies suggest that up to 10 percent of all cases of congenital diaphragmatic hernia may be due to Fryns syndrome.

Fryns syndrome appears to be inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a variant to cause the disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.

Published Date: March 24, 2025
Published By: National Institutes of Health