An omphalocele is an abdominal wall defect limited to an open umbilical ring, and is characterized by the herniation of membrane-covered internal organs into the open base of the umbilical cord. Omphalocele is distinguished from gastroschisis (230750), in ... An omphalocele is an abdominal wall defect limited to an open umbilical ring, and is characterized by the herniation of membrane-covered internal organs into the open base of the umbilical cord. Omphalocele is distinguished from gastroschisis (230750), in which the abdominal wall defect is located laterally to a normally closed umbilical ring with herniation of organs that are uncovered by membranes (summary by Bugge, 2010). On the basis of clinical manifestations, epidemiologic characteristics, and the presence of additional malformations, Yang et al. (1992) concluded that omphalocele and gastroschisis are casually and pathogenetically distinct abdominal wall defects. Omphalocele can be a feature of genetic disorders, such as Beckwith-Wiedemann syndrome (130650) and the Shprintzen-Goldberg syndrome (182210).
DiLiberti (1982) reported a family with multiple cases of omphalocele and abdominal wall hernias in an apparent autosomal dominant pedigree pattern. Males in 3 successive generations had umbilical hernia, sometimes with inguinal hernia, and 2 girls in the ... DiLiberti (1982) reported a family with multiple cases of omphalocele and abdominal wall hernias in an apparent autosomal dominant pedigree pattern. Males in 3 successive generations had umbilical hernia, sometimes with inguinal hernia, and 2 girls in the most recent (fourth) generation had omphalocele. DiLiberti (1982) provided a review of the literature and noted that cases of familial omphalocele had a much lower incidence of associated nongastrointestinal malformation than did sporadic cases. Pryde et al. (1992) described a woman in which infants born of each of 5 consecutive pregnancies (by 2 separate nonconsanguineous partners) were complicated by omphalocele as an isolated defect. Neither the woman nor her partners had a history of relatives with omphalocele, although the woman's brother and his son had 'large umbilical hernia' requiring repair in infancy. One of the 5 pregnancies resulted in spontaneous abortion at 16 weeks. The other 4 were associated with precocious labor and prematurity, with the longest survival being 5 months.
Using oligonucleotide microsphere hybridization in a 5-generation family in which 9 members over 3 generations had isolated omphalocele mapping to chromosome 1p31, Radhakrishna et al. (2012) identified an approximately 710-kb duplication at 1p31.3, with the proximal border at ... Using oligonucleotide microsphere hybridization in a 5-generation family in which 9 members over 3 generations had isolated omphalocele mapping to chromosome 1p31, Radhakrishna et al. (2012) identified an approximately 710-kb duplication at 1p31.3, with the proximal border at 63.5 Mb, proximal to the FOXD3 gene (611539), and the distal border within the ROR1 gene (602336). The duplication was present in all 8 available affected individuals but was absent in 2 unaffected family members. Multipoint linkage analysis using the duplication as a marker yielded a maximum lod score of 3.2 at 1p31.3 under a dominant model; the best-fitted parametric model was a dominant model with 99% penetrance and a disease-allele frequency of 0.0001. The duplicated region contained 7 genes: FOXD3, ALG6 (604566), ITGB3BP (605494), PGM1 (171900), DLEU2L, KIAA1799, and ROR1.
Calzolari et al. (1995) reported that a total of 732 cases of omphalocele and 274 cases of gastroschisis (230750) were registered in 21 regional registers in Europe (EUROCAT registers) during the period 1980 to 1990. The total prevalence ... Calzolari et al. (1995) reported that a total of 732 cases of omphalocele and 274 cases of gastroschisis (230750) were registered in 21 regional registers in Europe (EUROCAT registers) during the period 1980 to 1990. The total prevalence rates were 2.52 per 10,000 and 0.94 per 10,000, respectively. There was significant geographic heterogeneity in the prevalence rates. Consistently higher than average rates of omphalocele were found in the 5 centers in the British Isles. This was in large part the result of the association between omphalocele and neural tube defects. They observed a significant female excess among the cases of omphalocele associated with neural tube defects, in comparison with an insignificant male excess for other cases of omphalocele. Geographic differences in the prevalence of gastroschisis was partly explained by differences in maternal age distributions in the populations surveyed. Omphalocele was an isolated malformation in 46% of cases; gastroschisis was isolated in 79% of cases. Prenatal diagnosis leading to termination of pregnancy was reported in 33.2% of omphalocele and in 26.5% of gastroschisis cases, demonstrating the considerable impact of prenatal screening programs during the period of observation. On the basis of clinical manifestations, epidemiologic considerations, and the presence and type of additional malformations, both omphalocele and gastroschisis could be considered heterogeneous conditions. From a population-based registry covering 2 decades (1970 to 1989) in Denmark, Bugge (2010) identified 7 pairs of twins with omphalocele in at least 1 twin. There were 2 monozygotic (MZ), 2 dizygotic (DZ), and 3 same-sex pairs of unknown zygosity. All pairs were discordant for omphalocele except for a pair of conjoined twins. The 8 infants with omphalocele represented 3.1% of the 253 infants from the registry with omphalocele. Three infants had isolated omphalocele, and 5 had omphalocele with associated congenital malformations. The occurrence of twins with omphalocele was not significantly different from the occurrence of twins in the Danish population in the same period, but the study was too small to allow other conclusions for the role of genetic factors in omphalocele.