Syndromes and Disorders Associated with Omphalocele (III): Single Gene Disorders, Neural Tube Defects, Diaphragmatic Defects and Others

• Main Author: Chih-Ping Chen (Author)
• Format: Book
• Published: Elsevier, 2007-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.
• Notes: 1028-4559; 10.1016/S1028-4559(07)60004-7
• Keywords: congenital malformation; diaphragmatic hernia; genetics; neural tube defect; omphalocele; single gene disorder; Gynecology and obstetrics; RG1-991
• Source: Taiwanese Journal of Obstetrics & Gynecology, Vol 46, Iss 2, Pp 111-120 (2007)

Omphalocele can be associated with single gene disorders, neural tube defects, diaphragmatic defects, fetal valproate syndrome, and syndromes of unknown etiology. This article provides a comprehensive review of omphalocele-related disorders: otopalatodigital syndrome type II; Melnick-Needles syndrome; Rieger syndrome; neural tube defects; Meckel syndrome; Shprintzen-Goldberg omphalocele syndrome; lethal omphalocele-cleft palate syndrome; cerebro-costo-mandibular syndrome; fetal valproate syndrome; Marshall-Smith syndrome; fibrochondrogenesis; hydrolethalus syndrome; Fryns syndrome; omphalocele, diaphragmatic defects, radial anomalies and various internal malformations; diaphragmatic defects, limb deficiencies and ossification defects of skull; Donnai-Barrow syndrome; CHARGE syndrome; Goltz syndrome; Carpenter syndrome; Toriello-Carey syndrome; familial omphalocele; Cornelia de Lange syndrome; C syndrome; Elejalde syndrome; Malpuech syndrome; cervical ribs, Sprengel anomaly, anal atresia and urethral obstruction; hydrocephalus with associated malformations; Kennerknecht syndrome; lymphedema, atrial septal defect and facial changes; and craniosynostosis- mental retardation syndrome of Lin and Gettig. 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.