Fryns Syndrome: A Lethal Birth Defect with Variable Phenotypic Expressions in Siblings

Abstract

Fryns syndrome (FS) is a multiple congenital anomaly syndrome, inherited as an autosomal recessive defect with variable expression. The authors report a newborn with FS, whose mother had two previous affected pregnancies with the infants having variable phenotypic expression. FS is characterized by craniofacial dysmorphism, diaphragmatic hernia and distal limb hypoplasia. This is the first published report from India describing a case of FS with familial recurrence, which would serve further to illustrate the clinical variability of this disorder.

Prenatal and postnatal findings in five cases of Fryns syndrome

“…It is characterized by a variety of congenital anomalies, such as diaphragmatic hernia, facial dysmorphisms (coarse face, hypertelorism, broad and flat nasal bridge with thick nasal tip, long philtrum, tented upper lip, wide mouth, micrognathia, low‐set and poorly formed ears), distal digital hypoplasia, and others (cerebral, ocular, cardiovascular, genitourinary) . There is a wide inter‐familiar and intrafamiliar variability in the clinical manifestations of the syndrome, and discordant phenotypes have been described in monozygotic twins . FS was first reported in 1979 by Fryns et al ., but only recently have clinical criteria for diagnosis been proposed .…”

“…2 There is a wide inter-familiar and intrafamiliar variability in the clinical manifestations of the syndrome, and discordant phenotypes have been described in monozygotic twins. 3,4 FS was first reported in 1979 by Fryns et al, 5 but only recently have clinical criteria for diagnosis been proposed. 6 Prognosis is invariably poor, with the majority of affected infants dying soon after birth and a survival rate of 14-16%, 7 with the few reported survivors having profound developmental delay/ intellectual disability and seizures in some cases.…”