What’s Mowat-Wilson Syndrome?

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Mowat-Wilson syndrome is a rare birth defect caused by a defective gene. Babies born with this syndrome show a mixture of similar symptoms. Many have Hirschsprung’s disease, an intestinal disease that can cause intestinal blockage, chronic constipation, and bloating, which can lead to anemia. This is so common that Mowat-Wilson syndrome is sometimes known as Hirschsprung disease – mental retardation syndrome. Some other symptoms are mental retardation, delayed development, heart defects, seizures, and microcephaly, which is an abnormally small head.

This syndrome affects both genders and has been observed in various ethnic groups. The signs of this genetic anomaly are very evident in the facial features of some people. In addition to microcephaly, many are born with pointed chins, oversized eyebrows, large noses, and microphthalmia or unusually small eyes. These features commonly become more apparent as the individual matures, which is why Mowat-Wilson syndrome often isn’t diagnosed until later in life. For example, the small head characteristic of Mowat-Wilson syndrome may not be present at birth and may only appear after several years of delayed development.

The disease is usually diagnosed based on the various symptoms a child displays rather than genetic testing. Because there is often a delay in the onset of the obvious facial features characteristic of this syndrome, misdiagnosis is common. The wide variation in symptoms experienced by children with this syndrome also makes early diagnosis problematic.

Problems with the urinary tract and genitals are very common with Mowat-Wilson syndrome. Males often have hypospadias, a condition in which the opening of the urethra is under the penis, rather than at the tip. Less common are dental anomalies and malformations of the hands and feet. Skin color can also be affected.

Children with Mowat-Wilson syndrome often experience delays in learning to sit, stand, talk, and walk. Many have difficulty speaking and some never develop the ability to speak. Those who cannot speak can often understand what others are saying, however, and some develop a unique sign language to communicate their wishes.

The syndrome is believed to be caused by a sudden genetic mutation as there is no history of any predisposition in the families. There is no cure. Symptoms can be treated, and surgery is sometimes indicated for heart defects and urinary and genital tract abnormalities. Despite the multitude of accompanying health problems, people with Mowat-Wilson syndrome are generally happy and friendly.

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