FRYNS SYNDROME

FRNS; Diaphragmatic Hernia, Abnormal Face, and Distal Limb Anomalies; Congenital Diaphragmatic Hernia; CDH

Fryns Syndrome (FRNS) is a rare congenital disorder that affects the development of many parts of the body. Children with FRNS are born with a diaphragmatic hernia (hole in the diaphragm) that results in pulmonary hypoplasia (underdeveloped lungs), causing life-threatening breathing difficulties in affected infants. Other characteristics may include abnormalities of the fingers and toes; distinctive facial features; severe developmental delay and intellectual disability; and abnormalities of the brain, cardiovascular system, gastrointestinal system, kidneys, and genitalia. The exact cause of this condition is unknown, but is thought to be caused by autosomal recessive genetic mutations.

Diagnostic testing: The diagnosis of FRNS is based on clinical findings—no specific genetic mutations have been identified. Imaging such as chest and abdominal radiographs, cranial ultrasound examination, echocardiogram, and renal ultrasound may be used to determine the extent of the disease. Just having a congenital diaphragmatic hernia alone does not make the diagnosis.

Physical findings:

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  Congenital diaphragmatic hernia requiring emergency surgery at birth;

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  Pulmonary hypoplasia;

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  Characteristic facial features (ocular hypertelorism, coarse facies, low-set ears, micrognathia);

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  Cloudy corneas;

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  Abnormalities of the fingers and toes (distal digital hypoplasia);

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  Kidney dysplasia;

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  Severe developmental delay and intellectual disability; and

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  Abnormalities of the brain, cardiovascular system, gastrointestinal system, kidneys, and genitalia.

ICD-9: 756.6

FRNS is a congenital disorder that is characterized by multiple abnormalities that may affect cardiac, lung, and renal functioning. Survival beyond the neonatal period has been rare. In the few individuals that survive, severe developmental delays and intellectual impairment are common.

The treatment and management of FRNS is symptomatic such as corrective surgery for hernia repair. Standard supportive treatment is needed for children with cardiac, renal, and pulmonary involvement. School age children require individualized and flexible instructional curricula.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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  Clinical history and examination that describes the diagnostic features of the impairment;

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  Laboratory findings; and

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  Developmental assessment or psychological testing to address allegations of mental impairments may be warranted.

REMARKS

Listing level severity must be documented.

Listing level severity must be documented.