What is Mowat-Wilson syndrome?

Mowat-Wilson syndrome is a rare congenital abnormality caused by a defective gene. Children born with this syndrome show a mixture of similar symptoms. Many of them have Hirschssprung's disease, intestinal disease that can cause intestinal locking, chronic constipation and bloating and which can lead to anemia. This is so common that Mowat-Wilson's syndrome is sometimes known as Hirschsprung's disease-syndrome of mental retardation. Some other symptoms are mental retardation, delayed development, heart defects, epileptic seizures and microcephalies, an abnormally small head.

This syndrome affects both sexes and has been observed in different ethnic groups. The symptoms of this genetic anomaly are very obvious in the facial features of some people. In addition to microcephalia, many are born with pointed chin, excessive eyebrows, wide noses and microfthamia or unusually small eyes. These features are commonly become more noticeable because the individual matures and therefore msyndrome Owat-Wilson is not often diagnosedChristmas only in life later. For example, a small head characteristic of the Mowat-Wilson syndrome may not be present at birth and can only show up after several years of delayed development. Since the appearance of apparent facial features characterized by this syndrome is often delayed, the wrong diagnosis is common. The large variation of symptoms, which in children with this syndrome, also makes a timely diagnosis problematic.

Urinary and genital tract problems are very common in Mowat-Wilson syndrome. Men often have hypospadias, a state where the opening into the urethra is located under the penis, a place at the tip. Less common are dental abnormalities and malformations of hands and feet. The color of the skin can also be affected.

Children with Mowat-Wilson syndrome often experience delay in learning to sit, stand, talk and walk. Many of them have obstacles in speech and some have never developed the ability to speak. Those who cannot speak,However, they often understand what others say, and some develop a unique sign language for communicating their desires.

It is assumed that the syndrome is caused by a sudden gene mutation, because there is no medical history in families. There is no medicine. Symptoms can be treated and surgery is sometimes indicated for cardiac defects and abnormalities of urinary and genital tract. Despite the many health problems that accompany him, people with Mowat-Wilson syndrome are generally happy and friendly.