From the Guidelines
Omphalocele is commonly associated with several genetic syndromes, including Beckwith-Wiedemann Syndrome (BWS), Bohring-Opitz syndrome (BOS), Mulibrey nanism, and Perlman syndrome, as evidenced by recent studies 1. These syndromes are characterized by distinct clinical features and increased risk of various tumors. BWS, for example, is associated with macroglossia, macrosomia, visceromegaly, and increased risk of embryonal tumors, including Wilms tumor and hepatoblastoma 1.
Key Associations
- BWS: characterized by pre- and postnatal constitutional and organ overgrowth, macroglossia, omphalocele/umbilical hernia, facial nevus flammeus, hemihyperplasia, and embryonal tumors 1
- BOS: characterized by severe growth and feeding problems, severe developmental delay/intellectual disability, typical facial appearance, microcephaly, forehead hirsutism, cleft lip and palate, retinal abnormalities, flexion anomalies of upper limbs, and lower limb anomalies 1
- Mulibrey nanism: characterized by severe growth retardation, distinct dysmorphic features, constrictive pericarditis, hepatomegaly, male infertility, insulin resistance, and metabolic deficiencies, with an increased risk of benign and malignant tumors 1
- Perlman syndrome: characterized by polyhydramnios, macrosomia, characteristic facial dysmorphology, renal dysplasia and nephroblastomatosis, and multiple congenital anomalies, with a high risk of Wilms tumor 1
Clinical Implications
Early identification of these underlying syndromes is crucial for proper management, as they often involve multiple organ systems and may require specialized care beyond the surgical repair of the omphalocele itself. The presence of additional anomalies significantly affects prognosis and treatment planning, with cardiac defects being particularly important determinants of outcome.
Recommendations
Comprehensive genetic evaluation, including karyotyping and chromosomal microarray, is recommended to identify these underlying syndromes when an omphalocele is detected 1.
From the Research
Omphalocele-Associated Syndromes
The following syndromes are associated with Omphalocele (exomphalos):
- Trisomy 13/18 2
- Pentalogy of Cantrell 2
- Beckwith-Wiedemann syndrome 2, 3
- Otopalatodigital syndrome type II 4
- Melnick-Needles syndrome 4
- Rieger syndrome 4
- Shprintzen-Goldberg omphalocele syndrome 4
- Lethal omphalocele-cleft palate syndrome 4
- Cerebro-costo-mandibular syndrome 4
- Fetal valproate syndrome 4
- Marshall-Smith syndrome 4
- Fibrochondrogenesis 4
- Hydrolethalus syndrome 4
- Fryns syndrome 4
- Omphalocele, diaphragmatic defects, radial anomalies and various internal malformations 4
- Diaphragmatic defects, limb deficiencies and ossification defects of skull 4
- Donnai-Barrow syndrome 4
- CHARGE syndrome 4
- Goltz syndrome 4
- Carpenter syndrome 4
- Toriello-Carey syndrome 4
- Familial omphalocele 4
- Cornelia de Lange syndrome 4
- C syndrome 4
- Elejalde syndrome 4
- Malpuech syndrome 4
- Cervical ribs, Sprengel anomaly, anal atresia and urethral obstruction 4
- Hydrocephalus with associated malformations 4
- Kennerknecht syndrome 4
- Lymphedema, atrial septal defect and facial changes 4
- Craniosynostosis-mental retardation syndrome of Lin and Gettig 4
- Turner syndrome 3
Key Findings
Key findings from the studies include:
- Omphalocele is frequently associated with chromosomal and somatic anomalies, syndromes, and variable degrees of pulmonary hypoplasia 5
- Approximately 50% of cases are associated with genetic and multiple malformation syndromes 2
- Prenatal diagnosis has a key role in the condition as omphalocele can be diagnosed by ultrasound in the first trimester scan 6
- Perinatal identification of omphalocele should alert one to the possibility of omphalocele-related disorders and familial inheritance and prompt a thorough genetic counseling for these disorders 4