Juliet Cohen

Fryns syndrome Detailed Information

Fryns syndrome is an autosomal recessive genetic disease. A heaing for Fryns syndrome is not available.

Fryns syndrome is a uncommon disorder in which child’s are born with a variety of problems, particularly in breathing muscles, and in changes in the face. Fryns syndrome often causes a blemish in the diaphragm muscle, lungs that are underdeveloped, characteristic facial features, changes in the fingers and toes, and problems with internal organs such as the heart. The exact frequency of Fryns syndrome is not known, but has been probable to occur in about one in 12,000 live births. About 80 cases of Fryns syndrome have been reported in medical literature. Fryns syndrome occurs in males and females, and has no specific ethnic group association.

Characteristic symptoms and physical findings embrace protrusion of part of the stomach and/or little intestines into the chest hole (diaphragmatic hernia), abnormalities of the head and face area (craniofacial region), and underdevelopment of the ends of the fingers and toes. Extra symptoms include underdevelopment (hypoplasia) of the lungs, incomplete closure of the roof of the mouth, cardiac defects, and varying degrees of mental retardation. Fryns syndrome can cause facial features such as small, wide-set eyes, increased facial hair growth, abnormal jaws, low-set ears, and a hole above the mouth area or in the lips.

It can also reason other eye and vision problems, such as blurry vision. The abdominal organs in the chest cause the lungs to be underdeveloped (pulmonary hypoplasia). A diaphragmatic hernia along with underdeveloped lungs can cause harsh breathing difficulties in the child. Fryns syndrome can cause difference in other areas of the body, including the heart, brain and spinal cord, gastrointestinal system (which embraces the stomach and gut), bone system, and genitourinary tract.

Fryns syndrome can cause severe breathing pain for the child, through the diaphragmatic hernia and underdeveloped lungs. These children are severely ill, and frequently need machines to assist support their breathing, and obtain multiple medications intravenously. Surgery and/or supportive measures as in the general population. For congenital diaphragmatic hernia, the neonate is immediately intubated to stop inflation of herniated bowel; additional anomalies may require further consultations and management by a craniofacial team and pediatric specialists in neurology, cardiology, gastroenterology, and nephrology.

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