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Fryns syndrome

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Here’s a syndrome to bear in mind when you see a newborn baby with congenital diaphragmatic hernia. In 1979 JP Fryns and colleagues described two siblings who were stillborn and had craniofacial anomalies (coarse facies, large nose with flat bridge, large mouth, narrow palpebral fissures, low set ears, and cleft palate), hyperplasia of distal phalanges, short, webbed neck, and bilateral diaphragmatic hernias. It is an autosomal recessive condition but the chromosomal location is unknown. There is considerable variation in phenotype but the four most consistent features are distal digital hypoplasia, coarse facies, abnormal ears, and congenital diaphragmatic hernia. The latter is said to be a feature in some 75% to 90% of cases. About 14% of reported cases have survived the neonatal period. Between 1995 and 2001 details of 1833 children with congenital diaphragmatic hernia were entered into the database of a Congenital Diaphragmatic Hernia Study Group including data from 83 US hospitals. (The Congenital Diaphragmatic Hernia Study Group.

) Twenty-three (1.3%) of these children were given a diagnosis of Fryns syndrome. (Previous estimates had put Fryns syndrome as the cause of some 4% to 10% of all cases of congenital diaphragmatic hernia.) Eight of the 23 had cardiac defects including a variety of individual anomalies. One had an omphalocoel and one a neural tube defect. The diaphragmatic hernia was on the left in 15, on the right in 3, and bilateral in 2 (side unspecified in 3). Four children underwent extracorporeal membrane oxygenation. The 23 children did badly. Sixteen were not operated upon for their diaphragmatic hernias and all of these died at an average age of 2.25 days (30 minutes to 11 days). Seven underwent surgical repair between 6 hours and 14 days after birth and four survived to go home at between 32 and 129 days. Two of these four needed further surgery. Three had marked developmental delay and the fourth was thought to have delayed development but had not yet been assessed formally. Three died after 6, 15, and 168 days.

Fryns syndrome is an apparently rare, autosomal recessive disorder with a high rate of stillbirth and early neonatal mortality. Estimates of mortality and of the contribution of the syndrome to the total number of children with congenital diaphragmatic hernia will of course, depend on ascertainment and rates of referral to specialist surgical centres. Of the 19 children in this series who died six had care withdrawn with the agreement of their parents.

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