Fryns syndrome

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

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.

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.

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.

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.

The features of this condition often overlap with those of other disorders. As a result, Fryns syndrome can be difficult to diagnose.