Taiwanese Journal of Obstetrics and Gynecology
Volume 46, Issue 2 , Pages 111-120, June 2007

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

  • Chih-Ping Chen

      Affiliations

    • Corresponding Author InformationCorrespondence to: Dr Chih-Ping Chen, Department of Obstetrics and Gynecology, Mackay Memorial Hospital, 92, Section 2, Chung-Shan North Road, Taipei, Taiwan

Departments of Obstetrics and Gynecology, and Medical Research, Mackay Memorial Hospital, Taipei, Department of Biotechnology and Bioinformatics, Asia University, and College of Chinese Medicine, China Medical University, Taichung, Taiwan

Accepted 11 April 2007.

Article Outline

Summary 

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.

Key Words:  congenital malformation , diaphragmatic hernia , genetics , neural tube defect , omphalocele , single gene disorder

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PII: S1028-4559(07)60004-7

doi:10.1016/S1028-4559(07)60004-7

Taiwanese Journal of Obstetrics and Gynecology
Volume 46, Issue 2 , Pages 111-120, June 2007

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