FRYNS SYNDROME
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ALTERNATE NAMES
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FRNS; Diaphragmatic Hernia, Abnormal Face, and Distal Limb Anomalies; Congenital Diaphragmatic
Hernia; CDH
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DESCRIPTION
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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.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
ICD-9-CM/ICD-10-CM
CODING
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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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Characteristic facial features (ocular hypertelorism, coarse facies, low-set ears,
micrognathia);
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Abnormalities of the fingers and toes (distal digital hypoplasia);
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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
ICD-10: Q79.0
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PROGRESSION
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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.
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TREATMENT
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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.
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SUGGESTED PROGRAMMATIC
ASSESSMENT*
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Suggested MER for Evaluation:
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Clinical history and examination that describes the diagnostic features of the impairment;
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Developmental assessment or psychological testing to address allegations of mental
impairments may be warranted.
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Suggested Listings for
Evaluation: |
DETERMINATION
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LISTING
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REMARKS
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Meets
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110.08 A
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Listing level severity must be documented.
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110.08 B
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Listing level severity must be documented.
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Equals
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* Adjudicators may, at their discretion, use the Medical Evidence of Record or the
listings suggested to evaluate the claim. However, the decision to allow or deny the
claim rests with the adjudicator.
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