Mowat-Wilson syndrome
| Mowat-Wilson syndrome | |
 | |
|---|---|
| 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. | |
| OMIM | 235730 |
| DiseasesDB | 32975 |
Mowat Wilson syndrome is a rare genetic disorder that was clinically delineated by Dr. D. R. Mowat and Dr. M. J. Wilson in 1998.[1]
Presentation
The disorder is characterized by a number of health defects including Hirschsprung's disease, mental retardation, seizure disorder, delayed growth and motor development, congenital heart disease, genitourinary anomalies and absence of the corpus callosum. Distinctive physical features include microcephaly, narrow chin, cupped ears with protruding lobes, deep and widely set eyes, open mouth, wide nasal bridge and a shortened philtrum.
Causes
The disorder is an autosomal dominant disorder resulting from new mutations or deletions of the ZFHX1B (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.