Fryns

Fryns syndrome is a rare genetic disorder characterized by multiple congenital anomalies. The syndrome was first described by Jean-Pierre Fryns, a Belgian geneticist, in 1979. The exact cause of Fryns syndrome is unknown, but it is believed to be inherited in an autosomal recessive manner.

Symptoms and Signs

The symptoms of Fryns syndrome can vary greatly from one individual to another. However, some common features include diaphragmatic hernia, facial dysmorphism, distal limb hypoplasia, nail hypoplasia, and pulmonary hypoplasia. Other possible features include cleft palate, cardiac defects, renal anomalies, and neurological abnormalities.

Diagnosis

The diagnosis of Fryns syndrome is usually made based on the presence of characteristic clinical features. However, due to the rarity of the syndrome and the variability of its symptoms, it can be difficult to diagnose. Genetic testing may be used to confirm the diagnosis.

Treatment

There is currently no cure for Fryns syndrome. Treatment is symptomatic and supportive, and may include surgery for diaphragmatic hernia and other physical anomalies, as well as therapies for developmental and neurological issues.

Prognosis

The prognosis for individuals with Fryns syndrome is generally poor, with many infants dying in the neonatal period due to respiratory failure. However, some individuals with milder forms of the syndrome have been reported to survive into adulthood.

See Also

• List of genetic disorders
• List of rare diseases

References

Fryns Resources
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