Fryns syndrome

Fryns Syndrome

Fryns Syndrome (/frɪnz sɪndroʊm/; FS) is a rare genetic disorder that is typically characterized by multiple congenital anomalies. The syndrome was first described by the Belgian geneticist, Pierre Fryns, in 1979.

Etymology

The syndrome is named after Pierre Fryns, who first described the condition.

Characteristics

Fryns Syndrome is characterized by a variety of anomalies, including diaphragmatic hernia, facial dysmorphism, distal limb hypoplasia, and pulmonary hypoplasia. Other features may include cleft palate, micrognathia, cardiac defects, and renal anomalies. The severity and combination of symptoms can vary greatly among affected individuals.

Genetics

Fryns Syndrome is believed to be an autosomal recessive disorder, which means that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Diagnosis

Diagnosis of Fryns Syndrome is typically based on clinical features. Genetic testing may be used to confirm the diagnosis and to identify the specific gene mutation.

Treatment

There is currently no cure for Fryns Syndrome. Treatment is symptomatic and supportive, and may include surgical repair of diaphragmatic hernias and management of other physical anomalies.

Prognosis

The prognosis for individuals with Fryns Syndrome varies depending on the severity of symptoms. Many infants with the syndrome do not survive beyond the neonatal period due to severe respiratory distress caused by pulmonary hypoplasia and diaphragmatic hernia.

See also

• Genetic disorder
• Diaphragmatic hernia
• Pulmonary hypoplasia
• Autosomal recessive

External links

• Medical encyclopedia article on Fryns syndrome
• Wikipedia's article - Fryns syndrome

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