Table 3.

Other Allelic Disorders (not in the Differential Diagnosis)

GeneDisorderReference
ALX4 ALX4-related craniosynostosis 1OMIM 615529
MSX2 MSX2-related craniosynostosis 2OMIM 604757
MSX2-related classic cleidocranial dysplasia 3 Ott et al [2012]
1.

Single report of ALX4 variants with postulated link to craniosynostosis susceptibility [Yagnik et al 2012]

2.

Caused by specific missense pathogenic variants [Jabs et al 1993, Janssen et al 2013] and also associated with an additional copy of MSX2 as a result of gross structural abnormalities [Kariminejad et al 2009]

3.

Classic cleidocranial dysplasia associated with microduplications in noncoding regions upstream of MSX2 [Ott et al 2012]

From: Enlarged Parietal Foramina

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