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Fryns Syndrome.


Slavotinek A.


GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2007 Apr 18 [updated 2010 Jun 01].



Fryns syndrome is characterized by diaphragmatic defects (diaphragmatic hernia, eventration, hypoplasia or agenesis); characteristic facial appearance (coarse facies, ocular hypertelorism, broad and flat nasal bridge, thick nasal tip, long philtrum, low-set and poorly formed ears, tented upper lip, macrostomia, micrognathia); distal digital hypoplasia (nails, terminal phalanges); pulmonary hypoplasia; and associated anomalies (polyhydramnios, cloudy corneas and/or microphthalmia, orofacial clefting, renal dysplasia/renal cortical cysts, and/or malformation involving brain, cardiovascular system, gastrointestinal system, genitalia). Survival beyond the neonatal period has been rare. Data on postnatal growth and psychomotor development are limited; however, severe developmental delay and intellectual disability are common.


The diagnosis is based on clinical findings. No genes or loci associated with Fryns syndrome have been identified or mapped; however, several different chromosome aberrations have been described in individuals who have previously received a diagnosis of Fryns syndrome.


Treatment of manifestations: Surgery and/or supportive measures as for the general population. For congenital diaphragmatic hernia, the neonate is immediately intubated to prevent 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. Surveillance: Depends on the types of malformations present; those with successful congenital diaphragmatic hernia repair should be followed in a specialized center with periodic evaluations by a multidisciplinary team (pediatric surgeon, nurse specialist, cardiologist, pulmonologist, nutritionist).


Fryns syndrome is thought to be inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being neither affected nor a carrier. Because the gene(s) in which disease-causing mutations occur have not been identified, carrier testing and prenatal diagnosis using molecular genetic testing are not possible. Two- and three-dimensional ultrasonography and fetal magnetic resonance imaging have been used in the prenatal diagnosis of high-risk pregnancies.

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