Home > Encyclopedia of Genetic Disorders > Fryns syndrome

Definition

Fryns syndrome is a multiple congenital anomaly syndrome usually resulting in neonatal death.

Description

Fryns syndrome is a genetic condition involving abnormalities in many organ systems that usually results in neonatal death. The condition was first reported in 1979 by J. P. Fryns.

Typical anomalies include a characteristic facial appearance, including a broad nasal bridge (part of the nose between the eyes), small jaw, abnormal ears, cleft palate, abnormal fingers, underdevelopment of the lungs, and abnormalities of the urogenital system (kidneys and genitals). Diaphragmatic hernia (opening in the diaphragm muscle that can allow contents of the lower abdomen like the liver or intestine or stomach to move up into the chest cavity through the hole) can also be seen in...