Clinical Guidance

Fryns syndrome is characterized by diaphragmatic defects (diaphragmatic hernia, eventration, hypoplasia, or agenesis); characteristic facial appearance (coarse facies, wide-set eyes, a wide and depressed nasal bridge with a broad nasal tip, long philtrum, low-set and anomalous ears, tented vermilion of the upper lip, wide mouth, and a small jaw); short distal phalanges of the fingers and toes (the nails may also be small); pulmonary hypoplasia; and associated anomalies (polyhydramnios, cloudy corneas and/or microphthalmia, orofacial clefting, renal dysplasia/ renal cortical cysts, and/or malformations involving the brain, cardiovascular system, gastrointestinal system, and/or genitalia). Survival beyond the neonatal period has been rare.

Diagnostic Criteria

Diagnostic criteria for Fryns syndrome were reformulated by to include the six proposed criteria described in : diaphragmatic defect, characteristic facial appearance, distal digital hypoplasia, pulmonary hypoplasia, at least one characteristic associated anomaly, and family history consistent with autosomal recessive inheritance. Note: Controversy regarding diagnostic criteria include the extent to which phenotypic deviation from the original case reports of Fryns syndrome is tolerable. For example, individuals with atypical limb manifestations such as ectrodactyly, radial ray aplasia, limb shortening, and multiple pterygia have been labeled as Fryns syndrome by some authors but not by others.

Management Guidelines

No clinical practice guidelines for Fryns syndrome have been published.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual with Fryns syndrome, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended.

Table 8.

Fryns Syndrome: Recommended Surveillance

System/Concern | Evaluation | Frequency

Following successful CDH repair

| Evals by pediatric surgeon, nurse specialist, cardiologist, pulmonologist, nutritionist | As recommended by specialist(s)