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Review
. 2003 May;40(5):305-10.
doi: 10.1136/jmg.40.5.305.

Mowat-Wilson syndrome

D R Mowat  1 , M J Wilson, M Goossens
Affiliations
Review

Mowat-Wilson syndrome

D R Mowat et al. J Med Genet. 2003 May.

Abstract

MWS is a multiple congenital anomaly syndrome, first clinically delineated by Mowat et al in 1998. Over 45 cases have now been reported. All patients have typical dysmorphic features in association with severe intellectual disability, and nearly all have microcephaly and seizures. Congenital anomalies, including Hirschsprung disease (HSCR), congenital heart disease, hypospadias, genitourinary anomalies, agenesis of the corpus callosum, and short stature are common. The syndrome is the result of heterozygous deletions or truncating mutations of the ZFHX1B (SIP1) gene on chromosome 2q22.

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References

    1. Am J Med Genet. 2001 Jun 1;101(1):59-64 - PubMed
    1. Clin Dysmorphol. 2001 Jul;10(3):157-63 - PubMed
    1. Hum Mol Genet. 2001 Jul 1;10(14):1503-10 - PubMed
    1. J Med Genet. 2001 Nov;38(11):729-39 - PubMed
    1. Am J Hum Genet. 2001 Dec;69(6):1370-7 - PubMed

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