Fryns syndrome is a rare genetic disorder that causes birth defects, including a hole in the diaphragm that can cause underdeveloped lungs and heart. It is often noticed during fetal ultrasound examinations and can cause facial and limb abnormalities. Treatment options are limited, and regular visits to specialists are necessary.
A rare genetic disorder called Fryns syndrome causes distinct birth defects, some visible and some not. The most striking feature of this condition is a hole in the diaphragm that separates the abdomen and chest, causing organs such as the stomach and intestines to press upward into the chest, stifling the development of the lungs and heart. Some of the most obvious symptoms are underdeveloped fingers and toes, an exaggeratedly large mouth and nose, a tiny chin, and oddly positioned ears.
According to the National Institutes of Health, as many as 10% of patients with congenital diaphragmatic hernia (CDH) suffer from this disorder; however, the exact number is unknown. Children’s Hospital of Philadelphia estimates that about one in 2,500 births have CDH. The genetic deformities common to this disorder are typically noticed during fetal ultrasound examinations in the second trimester, which will measure how tall the liver and other organs are relative to the chest cavity.
Diaphragmatic hernia is the most life-threatening symptom of Fryns syndrome. After the birth, doctors will often try to surgically repair the hole, but only after radiological tests to assess the severity of the condition and the baby’s responsiveness. Regardless of the initial surgery, a child with Fryns syndrome will be closely monitored for several years as the hernia may have caused pulmonary hypoplasia or lung damage, as well as damage to the heart, brain, genitals, and kidneys.
The most obvious parts of Fryns syndrome are the facial and limb abnormalities, which can be subtle or obvious. A large nose tip and too large a space between the nostrils and upper lip are common, as are eyes that are smaller than usual and set far apart, a short thick neck, and stubby underdeveloped fingers and toes, often without nails. Unusually shaped ears set low on the head and a large mouth above a smaller-than-usual chin are also possible. A cleft palate or lip is also a possibility. Some or many of these symptoms are possible with this disorder.
Although some babies with Fryns syndrome survive into infancy, most die before or during birth due to their underdeveloped lungs. Those who survive risk being intellectually and developmentally disabled. Treatment options are few and many of the deformities are irreversible. Regular visits to a team of specialists, including cardiologists, surgeons, and pulmonologists, are needed to evaluate progress and prevent further health risks.
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