Symptoms
The symptoms of Mowat-Wilson syndrome may include:- Distinctive facial features - widely-spaced eyes (hypertelorism), prominent but narrow and triangular pointed chin, large broad eyebrows, and uplifted earlobes with a central depression
- Moderate to severe mental retardation
- Delayed growth and development, small head (microcephaly), severe speech impediment
- Seizures
- Hirschsprung's disease, or chronic constipation in those without it
- Congenital heart disease
- Birth defects of the genitals and urinary system, in particular hypospadias in males
- Agenesis or hypogenesis of the corpus callosum of the brain
- Eye defects such as small eyes (microphthalmia)
- Slender build, with slender and tapering fingers
Diagnosis
Diagnosis of Mowat-Wilson syndrome is based on the symptoms the child has. Genetic testing may confirm the presence of the ZEB2 genetic mutation. Other tests may be done to check for the presence of congenital heart disease, Hirschsprung's disease, or other birth defects, as well as mental retardation and seizures.Treatment
Treatment of Mowat-Wilson syndrome is focused on the symptoms present. Medical care by specialists such as a cardiologist (for treating heart defects) or a neurologist (for treating seizures) may be needed. Some birth defects (such as heart, genital, or urinary tract defects) may require surgery.Sources:
Garavelli, Linda, & Paola Cerruti Mainardi. "Mowat-Wilson Syndrome." Orphanet Journal of Rare Diseases 2(2007): ePub.
Adam, Margaret, Lora JH Bean, & Vanessa Rangel Miller. "Mowat-Wilson Syndrome." GeneReviews. 28 Mar 2007. GeneTests. 12 Nov 2007.
Zweler, C, CT Thiel, A. Dufke, et al. "Clinical and mutational spectrum of Mowat-Wilson syndrome." European Journal of Medical Genetics 48(2005): 97-111.
