Mowat–Wilson syndrome

Mowat–Wilson syndrome
File:Mowat-Wilson-2.JPEG Mowat–Wilson syndrome, clinical features of Patient 2 at age: (A) 1 year and 6 months; (B–C) 3 years and 5 months; (D–E) 8 years and 1 month.
Classification and external resources
Specialty
OMIM	235730
DiseasesDB	32975
Patient UK	Mowat–Wilson syndrome

Mowat–Wilson syndrome is a rare genetic disorder that was clinically delineated by Dr. D. R. Mowat and Dr. M. J. Wilson in 1998.

Presentation

File:Mowat-Wilson.JPEG

Mowat–Wilson Syndrome, clinical features of Patient 1 at age: (A) 1 year and 6 months; (B–C) 5 years; (D–E) 13 years and 8 months; (F–G) 18 years.

This autosomal dominant disorder is characterized by a number of health defects including Hirschsprung's disease, intellectual disability, epilepsy, delayed growth and motor development, congenital heart disease, genitourinary anomalies and absence of the corpus callosum. However, Hirschsprung's disease is not present in all infants with Mowat–Wilson syndrome and therefore it is not a required diagnostic criterion. Distinctive physical features include microcephaly, narrow chin, cupped ears with uplifted lobes with central depression, deep and widely set eyes, open mouth, wide nasal bridge and a shortened philtrum.

Causes

The disorder is expressed in an autosomal dominant fashion and may result from a de novo (new) mutation or deletions of the ZEB2 (also known as ZFHX1B or SMADIP1) gene on chromosome 2q22.

However, some of those affected by the disease do not have abnormalities of this gene that are currently detectable.

Prognosis

There is no cure for this syndrome. Treatment is supportive and symptomatic. All children with Mowat–Wilson syndrome required early intervention with speech therapy and physical therapy.

External links

• Centre for Genetics Education in Sydney, Australia (PDF Information Sheet)
• Documentary about a young man with Mowat–Wilson syndrome
• extensive links page
• GeneReview of Mowat–Wilson syndrome