A rare genetic disorder called Fryns syndrome results in 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 like the stomach and intestines to press upward into the chest, stifling development of the lungs and heart. Some of the more noticeable symptoms are underdeveloped fingers and toes, an exaggeratedly large mouth and nose, a tiny chin, and oddly placed ears.
According to the National Institutes of Health, as many as 10 percent of patients with congenital diaphragm hernia (CDH) suffer from this disorder; however, the exact number is unknown. The Children's Hospital of Philadelphia estimates that about one in 2,500 births exhibit CDH. The genetic deformities common to this disorder are typically noticed during fetal ultrasound exams in the second trimester, which will gauge how high the liver and other organs are in relation to the chest cavity.
The diaphragmatic hernia is the most life-threatening symptom of Fryns syndrome. After birth, physicians will often attempt to surgically repair the hole, but only after radiological testing to gauge the severity of the condition and the baby's responsiveness. Regardless of initial surgical intervention, a child with Fryns syndrome will be closely monitored for several years since the hernia may have caused pulmonary hypoplasia, or damage to the lungs, as well as damage to even the heart, brain, genitals and kidneys.
The more noticeable parts of Fryns syndrome are the facial and extremity abnormalities, which can be subtle or striking. A wide nose tip and overextended gap between the nostrils and upper lip are common, as are smaller-than-usual and wide-set eyes, a thick-set and short neck, and stubby, underdeveloped fingers and toes — often without nails. Also possible are unusually shaped ears set low on the head and a large mouth above a smaller-than-usual chin. A cleft palate or lip is also a possibility. Some or many of these symptoms are possible with this disorder.
Though some children with Fryns syndrome survive into childhood, most die before or during birth due to their underdeveloped lungs. Those who do survive are likely to be intellectually and developmentally disabled. Treatment options are few, and many of the deformities are irreversible. Regular visits to a team of specialists is required, including cardiologists, surgeons and pulmonologists, to gauge progress and head off any additional health risks.