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Fryns Syndrome

Abstract

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Synonyms of Fryns Syndrome

  • FRNS

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Fryns syndrome is an extremely rare inherited disorder characterized by multiple abnormalities that are present at birth (congenital). Characteristic symptoms and physical findings include protrusion of part of the stomach and/or small intestines into the chest cavity (diaphragmatic hernia), abnormalities of the head and face area (craniofacial region), and underdevelopment of the ends of the fingers and toes (distal digit hypoplasia). Additional symptoms include underdevelopment (hypoplasia) of the lungs, incomplete closure of the roof of the mouth (cleft palate), cardiac defects, and varying degrees of mental retardation. Fryns syndrome is inherited as an autosomal recessive trait.

Organizations related to Fryns Syndrome

Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder (e.g., craniofacial abnormalities.)

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