Table 3.

Selected Syndromes or Associations in Which CDH is Less Frequently a Feature

SyndromeInheritance PatternGene (Locus) 1
Apert syndromeAD 2FGFR2
Beckwith-Wiedemann syndromeSee footnote 3Dysregulation of imprinted genes on 11p15.5
CHARGE syndromeAD 2CHD7
C (trigonocephaly) syndrome?AR or ?microdeletion syndrome 4CD96
Coffin-Siris syndrome?AR 4Unknown
Czeizel-Losonci syndromeADUnknown
Gershoni-Baruch syndromeARUnknown
Goltz syndrome (focal dermal hypoplasia)XLPORCN
Kabuki syndromeSingle gene, possibly AD, in some families; etiologic heterogeneity also likelyUnknown
Marfan syndromeADFBN1
Mathieu syndromeADUnknown
Meacham syndromeAD 2WT1 5
Microphthalmia with linear skin lesions syndromeXLHCCS
PAGOD syndromePossible defect in vitamin A pathway; Possibly ARUnknown
Pentalogy of CantrellSporadicUnknown
Poland anomalySporadicUnknown
Swyer syndromeSee footnote 6Unknown
Thoraco-abdominal schisis?XL 3Unknown

Table does not include single case reports of CDH.


Locus is given if gene has been mapped, but is not known.


All or most occurrences result from de novo pathogenic variants.


Majority of cases are simplex (i.e., a single occurrence in a family) but can be transmitted as AD, especially if mother has a CDKN1C pathogenic variant.


? = Number provided represents an educated estimate, derived from the medical literature and authors’ personal experiences.


A pathogenic variant has been identified in one case to date.


Heterogeneous causes (~30% of Swyer syndrome cases caused by mutation or deletion of SRY; however, no SRY pathogenic variants have been documented to date in persons with Swyer syndrome and CDH).

From: Congenital Diaphragmatic Hernia Overview

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