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[Incidence and etiology of omphaloceles (author's transl)]
Insights
Omphaloceles, a birth defect where abdominal organs protrude through the umbilical cord, affect 1 in 4300 newborns. While some cases link to genetic syndromes, most isolated omphaloceles appear sporadic, possibly influenced by genetics and environment.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Surgery
Context:
- Omphaloceles are congenital abdominal wall defects characterized by herniation of viscera into the umbilical cord.
- The incidence is approximately 1:4300 live births, with a slight male predominance.
- Associated anomalies are present in about 50% of cases, influencing etiology and management.
Purpose:
- To review the etiology, incidence, and associated conditions of omphaloceles.
- To differentiate between syndromic and isolated omphaloceles.
- To discuss potential genetic and environmental factors contributing to omphalocele development.
Summary:
- Omphaloceles represent a significant congenital malformation with a known incidence and sex ratio.
- Etiologically, omphaloceles are categorized into those associated with known genetic syndromes (e.g., Wiedemann-Beckwith syndrome, chromosomal abnormalities) and isolated, often sporadic cases.
- Isolated omphaloceles may result from polygenic or multifactorial inheritance, with emerging evidence suggesting exogenous factors also play a role.
Impact:
- Provides a comprehensive overview of omphalocele etiology for clinicians and researchers.
- Highlights the importance of differentiating syndromic from isolated cases for accurate diagnosis and genetic counseling.
- Informs future research directions into the complex interplay of genetic and environmental factors in omphalocele pathogenesis.
Abstract:
Omphaloceles are congenital malformations with herniation of the abdominal viscera into the umbilical cord. The incidence in newborns is 1:4300, the sex ratio 1.24:1 in favour to boys. Children with this malformation are neither more frequent at the beginning nor at the end of the sibship; the average maternal age is not increased. In about 50% other different malformations are found. All those omphaloceles, which are found as an obligatory symptom in the EMG syndrome (Wiedemann-Beckwith syndrome) to be probably in most cases autosomal recessively inherited or which are seen within a chromosomal malformation syndrome are of etiologically known origin. Omphaloceles without other malformations are mainly sporadic, less frequent in sibs, possibly due to a polygenic or multifactorial mode of inheritance. Findings in population genetics and animal experiments suggest that exogenous factors, too, can be the cause of malformation syndromes with omphaloceles.