Mowat-Wilson syndrome: Hirschsprung disease-Microcephaly-Mental Retardation syndrome

Mowat-Wilson syndrome is a rare disorder which was first described in detail by Dr D R Mowat and Dr M J Wilson in 1998. Although individuals with the main characteristics of Hirschsprung disease, learning disability and typical facial features, had been described by a number of doctors in the preceding twenty years, it was suggested in 2002 that the syndrome be called Mowat-Wilson syndrome. The syndrome affects both males and females and by 2004, forty-seven cases of the syndrome had been reported in medical literature.

The majority of patients with Mowat-Wilson syndrome have a mutation or a deletion of the ZFHX1B gene (also known as the SMADIP1 gene) on chromosome 2q22. There are, however, some affected individuals who do not have any detectable abnormality within this gene and this group of patients may either have an abnormality of ZFHX1B which is not detectable by current techniques or a different genetic basis for their condition.

The major features of Mowat-Wilson syndrome are:

• Hirschsprung disease;
• Mild to moderate learning disability;
• Typical facial features that include:
  • Microcephaly;
  • Deep set, widely spaced eyes;
  • Characteristic ear shape with a turned-up ear lobe;
  • Broad nasal tip and short philtrum (the vertical central groove from the nose to the upper lip);
  • Small open mouth with a highly arched palate;
  • Prominent chin.
• Growth, and motor development delay - speech can be delayed or absent;
• Seizures in the majority of individuals (see entry, Epilepsy);
• Failure to thrive in early life.

Other features that have been observed in individuals with Mowat-Wilson syndrome include:

• Congenital heart disease (see entry, Heart defects);
• Cleft lip and/or palate;
• Genitourinary anomalies;
• Eye anomalies;
• White patches on the skin.

Diagnosis of the syndrome is made by recognition of the clinical features and identification of a ZFHX1B gene change. Diagnosis of the syndrome has been made on clinical grounds alone in a number of individuals without the gene mutation.

Mowat-Wilson syndrome cannot be cured. Treatment is symptomatic aimed at maintaining or improving quality of life.

Inheritance patterns
Mowat-Wilson syndrome is usually a sporadic disorder (isolated with no other affected family members). Genetic advice or counselling is available for families.

Prenatal diagnosis
This may be possible in families with an affected child where a genetic change of ZFHX1B has previously been identified.

Medical text written November 2004 by Contact a Family. Approved November 2004 by Dr J Clayton-Smith, Consultant Clinical Geneticist, St Mary's Hospital, Manchester, UK.

Further Online Resources
Medical texts in The Contact a Family Directory are designed to give a short, clear description of specific conditions and rare disorders. More extensive information on this condition can be found on a range of reliable, validated web sites and links to them are included in the CD-ROM version of this Directory. Further information on these resources can be found in our Medical Information on the Internet article.

Mowat-Wilson Syndrome Support Group
13 Barry Avenue
Ingol
Preston PR2 3XL
Tel: 01772 760119
e-mail: support@mowatwilsonsyndrome.co.uk
Web: http://www.mowatwilsonsyndrome.co.uk

The Group is an informal network of families in the UK and overseas, set up in 2005. It provides information and mutual support.

Group details last updated April 2007.