Fryns syndrome (FS) is a rare autosomal recessive congenital anomaly syndrome with an incidence of 0.7 per 10000 births [1]. The 6 diagnostic criteria for FS are as follows: 1) congenital diaphragmatic defect, 2) characteristic facial appearance, 3) distal digital hypoplasia, 4) pulmonary hypoplasia, 5) characteristic associated anomalies like polyhydramnios, brain malformations, renal dysplasia, gastrointestinal system malformations and genital malformations and 6) parental consanguinity. For a diagnosis of Fryns syndrome to be made, at least 3 out of 6 criteria have to be present [6]. Our patient met 4 out of the 6 criteria.

FS is one of the most common syndromes associated with congenital diaphragmatic hernia.Fryns syndrome may be the most common autosomal recessive syndrome in which congenital diaphragmatic hernia is a cardinal feature [7]. The severity of FS varies. Vargas et al reported a pair of monozygotic twins that had FS with differences in diaphragmatic defect: The first twin had no diaphragmatic defect and at the age of one year had mild development delay. The second twin had left congenital diaphragmatic hernia and died as a neonate [3].The authors suggested that absence of diaphragmatic defect in FS may represent a subpopulation of mildly affected patients [3].Kantarci et al showedan association between congenital diaphragmatic hernia and chromosomal aberrations such as 15q26.1.q26.2 or 1q41-q42.12.For instance, FOG 2 and GATA 4 are needed for both normal development of the diaphragm and the lungs [8]. The index patient did not have any diaphragmatic defect but had an omphalocele major.

In 2004, Pierson et al reviewed 77 reported patients that had FS. There were abnormal eye findings in 12 patients (15.6%) out of the 77 patients [8].In the past, cloudy cornea was considered a major feature of FS. However, cloudy cornea is currently considered minor diagnostic criteria [9]. There was no eye abnormality in our patient. Multiple midline developmental defects that may be present in FS include gastroschisis, omphalocele, central nervous system defects with left arrhinencephaly and cerebellar hypoplasia, midline cleft of the upper lip, alveolar ridge, maxillary bone and cleft nose with bilateral choanal atresia [10]. Arnold et al published a report of a male fetus with FS with the above additional abnormalities[10]. Omphalocele was present in our patient. Classically, FS is characterized by distal limb hypoplasia. The spectrum of distal limb hypoplasia includes short and broad hands, short digits, short or absent terminal phalanges, hypoplasticor absent nails and clinodactyly [11]. Our patient had short and broad hands and short digits. Van Hove et al reported the high mortality rate associated with FS. He reported that about 36.5% of fetuses die before 36 weeks gestation and 32.2% were born alive after 36 weeks but died within the first few days of life [12]. However, Neville et al reported a 15% chance of survival [13]. The exact cause of FS is not known. FS runs in families and is thought to be genetic because it has features similar to other genetic disorders. However, no specific gene has been identified [14]. There are significant inter and intra-familial phenotypic variations [3].