Table 2.

Selected Syndromes in Which CDH is a Feature

SyndromeFrequency of CDH in This Disorder 1Mode of InheritanceGene Symbol
Cornelia de Lange syndrome?up to 5% 2ADNIPBL 3
SMC3
UnknownXLSMC1A
Craniofrontonasal syndromeRareXL(But males less severely affected than females)EFNB1
Denys-Drash syndromeRareADWT1
Donnai-Barrow syndrome~70%ARLRP2
Fryns syndrome>80% (but ascertainment may be biased)AR4Unknown (possible etiologic heterogeneity)
Matthew-Wood syndrome~50%ARSTRA6
Spondylocostal dysostosis (SCDO)RareAR 5DLL3
RareMESP2 6
RareLFNG 6
RareHES7
Simpson-Golabi-Behmel syndromeRareXLGPC3
1.

Author's estimate

2.

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

3.

NIPBL mutations in up to 50%

4.

Presumed to be AR, but phenotype recently reported in cases with de novo microdeletions

5.

All the known monogenic forms of SCDO follow autosomal recessive inheritance. Note: One pedigree reported to follow autosomal dominant inheritance has been shown to be an example of pseudodominant inheritance of SCDO caused by mutations in DLL3 in a highly consanguineous family [Whittock et al 2004].

6.

One family

From: Congenital Diaphragmatic Hernia Overview

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