About Mowat-Wilson Syndrome

Okay, so you may have already found out that Mowat-Wilson syndrome (MWS) is a genetic condition that affects many different parts of the body. Major signs of MWS include distinctive facial features, intellectual disability, globally delayed development, an intestinal disorder called Hirschsprung disease, and possibly some other birth defects.

However, Mowat-Wilson Syndrome people enjoy vibrant and happy lives, because their condition is characterised by lots of happiness and a genuine enjoyment of social contact. Our little boy Max loves nothing better than playing a game of throw the ball with his brother, and is very vocal when dinner’s being made or jokes are being traded across the noisy kitchen!

Children with Mowat-Wilson syndrome often have a square-shaped face with widely spaced eyes. They have a broad nasal bridge with a rounded nasal tip; a prominent and pointed chin; large eyebrows and uplifted earlobes with a dimple in the middle. These facial features may become more obvious as the children age, and adults with Mowat-Wilson syndrome often have a longer face. However, don’t be overly alarmed when you Google the condition. This is extremely counter productive (I know – I’ve done it myself) because as Dr. Mowat himself has commented, it’s such a recent condition that many of the images represent the most extreme examples of MWS.  Many MWS people – surprise surprise – look like their loving parents! There’s a wide spectrum, so while MWS is definitely a serious condition, do not become depressed by looking at misleading images. Some of the ‘MWS’ images may not even be correctly diagnosed – there’s no medical confirmation out there in the ether.

MWS people tend to have a smiling, open-mouthed expression, and as we’ve seen above, they typically have friendly and happy personalities.

Mowat-Wilson people usually have a small head (microcephaly), structural brain abnormalities, and intellectual disability ranging from moderate to severe. Speech is absent or severely impaired, and affected people may learn to speak only a few words. However, many people with this condition can understand others’ language, and can use sign language and pictorial communication to convey their thoughts. If speech develops, it is delayed until mid-childhood or later. Children with MWS also have delayed development of motor skills such as sitting, standing, and walking.

Keep in mind that the other side of the coin is rarely discussed – and that’s the fact that in some ways, MWS people are how we all should be. They have no vindictiveness or deviousness. They are constantly in awe of the universe around them. Every day is a new adventure to be enjoyed. And they always, always openly show their affection towards those they love.

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