Table 2.

Congenital Diaphragmatic Hernia: Syndromic Causes of Unknown Genetic Etiology and Distinguishing Clinical Features

SyndromePredicted MOI 1Occurrence of CDH in Persons w/SyndromeDistinguishing Clinical Features
Fryns syndrome of unknown genetic causeAR+++
  • Characteristic facial appearance; short distal phalanges of fingers & toes; pulmonary hypoplasia; & assoc anomalies (polyhydramnios, cloudy corneas &/or microphthalmia, orofacial clefting, renal dysplasia / renal cortical cysts, &/or malformations involving brain, cardiovascular system, GI system, &/or genitalia)
  • Mild ID to severe DD in survivors
  • Survival beyond neonatal period is rare.
Pentalogy of CantrellUnknown+++Sternal, pericardial, & abdominal wall defects w/cardiac defects & omphalocele
Thoracoabdominal syndrome (OMIM 313850)XL++Cardiac anomalies, hypoplastic lungs, abdominal wall defects, defect of lower sternum

AR = autosomal recessive; ID = intellectual disability; MOI = mode of inheritance; XL = X-linked

+++ = CDH is considered a core feature in this syndrome. For extensively reported syndromes, CDH is a common component (i.e., >40%).

++ = CDH is a variable feature of this syndrome. For extensively reported syndromes, CDH is a less common finding (i.e., ~10%-40%). For less extensively characterized syndromes, multiple case reports of CDH are present in the published literature.

1.

Genetic basis is unknown and inheritance pattern is predicted based on reports of sib recurrences, parental consanguinity, parental transmission, or increased severity in males.

From: Congenital Diaphragmatic Hernia Overview

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.