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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>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.</p><p>The PIGN gene variants that cause Fryns syndrome are known as &quot;loss-of-function variants&quot; because they reduce the amount of functional GPI ethanolamine phosphate transferase 1 enzyme that is available to modify the GPI anchor. As a result, the GPI anchor cannot deliver proteins to their proper places on the cell membrane. This disrupts critical developmental pathways, which leads to the signs and symptoms seen in people with Fryns syndrome.</p><p>Researchers are trying to determine other possible genetic causes for Fryns syndrome. Chromosomal changes, such as missing (deleted) chromosomal material, that can cause features similar to those seen in people with Fryns syndrome are of particular interest to investigators.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/fryns-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Fryns syndrome?"},{"bodyHtml":"<p>Most people with Fryns syndrome have a defect in the muscle that separates the abdomen from the chest cavity (the diaphragm). The most common defect is a congenital diaphragmatic hernia, which is a hole in the diaphragm that develops before birth. This hole allows the stomach and intestines to move into the chest and crowd the heart and lungs. As a result, the lungs often do not develop properly (pulmonary hypoplasia), which can cause life-threatening breathing difficulties in affected infants.</p><p>People with Fryns syndrome typically have abnormalities of the fingers and toes and distinctive facial features. The tips of the fingers and toes tend to be underdeveloped, so they can look short and stubby and have small nails or no nails at all. Affected individuals may have widely spaced eyes (hypertelorism), a broad and flat nasal bridge, a thick nasal tip, a long space between the nose and upper lip (a long philtrum), a large mouth (macrostomia), and a small lower jaw (micrognathia). Many also have low-set and abnormally shaped ears.</p><p>Additional features of Fryns syndrome include small eyes (microphthalmia), clouding of the clear outer covering of the eye (the cornea), and an opening in the roof of the mouth (cleft palate) with or without a split in the lip (cleft lip). Fryns syndrome can also affect the development of the brain, heart, digestive system, kidneys, and genitalia.</p><p>Because there are significant health problems associated with congenital diaphragmatic hernias, most children with Fryns syndrome do not survive past infancy. Affected individuals who do survive into childhood often have severe developmental delays and intellectual disabilities.</p><p>The features of this condition often overlap with those of other disorders. As a result, Fryns syndrome can be difficult to diagnose.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/fryns-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"fryns-syndrome","sourceDocuments":[{"name":"Fryns syndrome","reviewed":"2025-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:38.973201+00:00","label":"Causes","pageSha256":"65507bcf47711a3e739e997a0b97faccf79f4914051c1b0ce4db3b0910ecab3d","sourceUrl":"https://medlineplus.gov/genetics/condition/fryns-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/fryns-syndrome"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Fryns syndrome"},"schemaVersion":1}