Mowat-Wilson syndrome
Overview
Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, and other birth defects.
Symptoms
- Mental retardation
- Delayed motor development
- Epilepsy
- Small head
- Corpus callosum agenesis
- Wide set eyes
- Wide nose bridge
- Droopy eyelids
- Iris coloboma
- Convergent strabismus
- Cleft palate
- Sparse scalp hair
- Ventricular septal defect
- Hypospadias
- Divided scrotum
- Short stature
- Learning disability
- Reduced muscle tone
- Mouth held open
- Smiling expression
- Uplifted face
- Unusual eyebrows
- Hooked nose
- Hirschsprung disease
Causes
Mutations in the ZEB2 gene cause Mowat-Wilson syndrome.
The ZEB2 gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues before birth. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Researchers believe that the ZEB2 protein is involved in the development of tissues that give rise to the nervous system, digestive tract, facial features, heart, and other organs.
Mowat-Wilson syndrome almost always results from a loss of one working copy of the ZEB2 gene in each cell. In some cases, the entire gene is deleted. In other cases, mutations within the gene lead to the production of an abnormally short, nonfunctional version of the ZEB2 protein. A shortage of this protein disrupts the normal development of many organs and tissues, which causes the varied signs and symptoms of Mowat-Wilson syndrome.
Prognosis
There is no cure for this syndrome. Treatment is supportive and symptomatic.