What is Mowat Wilson Syndrome?
The Mowat Wilson Syndrome is one of the most common genetic disorders occurred in the world. It is especially attributed as different physical appearances. The disease affects many organs of the body and causes multi organ problem due its specifications. The most specific and prominent signs of the disease are the distinctive physical appearances, intellectual disability and also the birth defects.
The Mowat Wilson Syndrome is often and commonly associated with square shaped face, wide and spaced eyes, heavy eye brows, pronounced and distinctive jaw and chin, lack of brain development, abnormal brain functions and others.
Causes of Mowat Wilson Syndrome
The root cause of the Mowat Wilson Syndrome is the gene mutation in the body during the birth. The gene that is also referred as ZEB2 commonly present in the long arm of the Chromosome 2 is responsible for the syndrome. The gene produces a special Zinc Protein. This protein has the transcription features which are helpful during the formation of the organs of the body. It is responsible for the growth of facial features, nervous system, digestive tract and many other organs. Normally, the Zinc Protein helps to transfer the information to pass from DNA to RNA. However, in case of mutation, if the protein is missing or in an inadequate amount in the body, the development of organs suffers. The body has a different appearance and function, and the syndrome is termed as Mowat Wilson Syndrome.
Genetics of Mowat Wilson Syndrome
It has been observed that the Mowat Wilson Syndrome occurred due to the first time genetic mutation. There is no explanation to the cause of the genetic mutation. However, it is not necessary that a parent who gave birth to a Mowat Wilson Syndrome child may again do the same, or a genetic mutation may not occur again for them. But the child born may inherit the disease to the next generation.
If a gene with Mowat-Wilson Syndrome or mutated gene is coupled with the normal gene then, the child may or may not receive the quality of the mutated gene for Mowat-Wilson Syndrome. However, if the child receives the mutated gene, then he/she will be the victim of Mowat-Wilson Syndrome and inherit the mutated gene as well.
Symptoms of Mowat Wilson Syndrome
The symptoms of the disease are combined with some special features and common problems. The children with Mowat Wilson Syndrome may weigh normal after the birth, but various other common external and function features can be noted in the child, that can very well indicate the Mowat Wilson Syndrome. It is not necessary that this disease is hereditary in nature, so it is best to observe and understand the symptoms of the Mowat-Wilson Syndrome.
The child will show distinctive facial features after the birth. The features may not seem clear just after the birth but become prominent after some time. The most common facial features are square shaped faces, huge nasal bridge and pointed chin. The eyes are generally very large, deep and also spaced. The ears may also be large in size and may even be rotated. The growth of the facial features continue with time and can take a different look altogether.
All the child born with Mowat Wilson Syndrome show lack of intellectual quality. The lack of Zinc Protein does not develop the brain and it in turns show severe to moderate problem with the brain function. It has been seen that the children have a problem with learning languages, expressing emotions, learning new things and many others. It is also seen that the sufferers are not so much adaptive in nature and does not build the logical mind. However, the intellectual property can only be seen with time. The lack of development can be seen in the attitude of the sufferers also. The people with Mowat Wilson Syndrome also show a lack of motor activity like sitting, walking and running.
They are generally happy and also show social behaviour. However, many of the symptoms can be spotted with the behaviour of the patient. They generally chew objects and grind the teeth as well. They also have a habit of switching lights On and Off.
Epilepsy is also very common with the Mowat-Wilson Syndrome patients. The absence of the gastrointestinal tract and Hirsch sprung symptoms are very common. This often results in inflammation and also damage to intestine walls. Constipation becomes very frequent and common. There might be the absence of nerves as well in the gastrointestinal tract.
The cardiovascular problems with the patient are also very common. There are instances where the chronic heart problems have troubled the patient with Mowat Wilson Syndrome. The presence of defects and problems in the Urinary Tract of the patient is also very common in case of Mowat Wilson Syndrome.
Life Expectancy of Mowat Wilson Syndrome
Mowat Wilson Syndrome is not so common disease, and the data available for the life expectancy is very less. According to the experts, the chronic symptoms do not really let the patient live for many days. The heart problems can further decrease the life expectancy. According to the data available, the average Life Expectancy of people lies between 15-25. As of now, the patient with the highest age in Mowat-Wilson Syndrome is 30.