- 1Department of Medical Genetics, The Sydney Children’s Hospital, University of New South Wales, Sydney, NSW 2031, Australia
- 2Department of Clinical Genetics, Western Sydney Genetics Program, The Children’s Hospital at Westmead, Hawkesbury Road, Westmead, Sydney, NSW 2145, Australia
- 3INSERM U468 et Service de Biochimie et Genetique, AP-HP, Hopital Henri Mondor, 51 Avenue du Marechal de Lattre de Tassigny, 94010 Creteil, France
- Correspondence to: Dr D Mowat, Department of Medical Genetics, Sydney Children’s Hospital, High Street, Randwick, NSW 2031, Australia;
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.