What are the symptoms of the Marshall-Smith syndrome?

What does a person with MSS look like?

The appearance of a person with MSS is very distinctive. The chart below shows the external symptoms that are part of this syndrome. Please note that not everybody with MSS has all the symptoms mentioned.

Which other physical symptoms occur with the Marshall-Smith Syndrome?

Not all physical symptoms are immediately noticeable in the appearance of someone with MSS. These other physical symptoms are mentioned in the overview below.

In tests and treatments you can find which tests and treatments are available per symptom or problem.

Intelligence and (social) development

All children with MSS have a serious intellectual disability. That is why most children will have limited speech or will never learn how to speak at all. They might never be toilet trained. Because this requires extra care, adapted day-care or schools are necessary. Some children go to day-care from their parental homes, others from a surrogate family unit with specialized care. As adults, most people with MSS live in an institution for people with intellectual disabilities. How does the Marshall-Smith syndrome affect daily life? explains the effects on daily life in more detail.

Nature and behaviour

Children and (young) adults with MSS are very social people. They enjoy being around people they are familiar with.

Many children with MSS like motion games. Playing wildly is not always possible because of the physical disabilities (reduced muscle strength, brittle bones and delayed development of normal movement).

Tenacious behaviour is typical for children with MSS. They can be very persistent and also repeat certain behaviour. They can be very possessive of people, animals or toys. They often get attached to a specific toy.

Maladjusted behaviour doesn't occur very often. When a child does show difficult behaviour, it might be caused by a physical problem. A child's behaviour is often a good indicator of pain and fatigue.

Language, speech and communication

For most children with MSS, learning to speak is not possible, but they can learn to communicate in other ways. For example by making eye contact or showing facial expressions. You can also pick something up, point to it or make a sign. By encouraging the child when it does well, communication will increasingly become a two-way street.

There are several courses on improving communication. You can read more about this in tests and treatments.

Sleep

Different problems can occur during sleep. When a children are lying on their backs or tummies (as opposed to on their sides) the usual breathing difficulties can be made worse. Sometimes there are short intervals in breathing (sleep apnoea). Some children have epileptic seizures in their sleep. It is important to tell your paediatrician what you notice during your child’s sleep. Treating the symptoms is sometimes possible and necessary.

Muscular strength

People with MSS have reduced muscle strength in their entire bodies. Doctors call this ‘hypotonia’. Normal development, such as a baby’s ability to independently hold its head up or a toddler learning to crawl, takes more time and effort. Children can easily fall during play. Sometimes children with MSS can learn how to walk with special aids. Reduced muscle strength can cause drooling. The shorter lower jaw also plays a part, as does the difficulty in swallowing and not being conscious of running saliva.