Copyright (c) 2007 Grace Riddell

Smith-Magenis Syndrome (SMS)

Description of Smith-Magenis Syndrome (SMS)

 

Smith-Magenis Syndrome (SMS) is a genetically determined condition associated with learning difficulties and development delay. It’s caused by a deletion on chromosome 17 at 17p 11.2. Children tend to have similar physical features and facial appearance: a short rounded skull, a broad face and nasal bridge, a flat mid-face, short broad hands, inbent fingers, small toes and a hoarse deep voice. The upper lip characteristically has a cupid's bow shape, and the corners of the mouth may be turned down. Hearing loss following recurrent otitis infections is also common, so it is crucial to have hearing checked regularly. Individuals with SMS may show decreased or absent deep tendon reflexes and a decreased sensitivity to pain. Feeding difficulties in children with the syndrome are common especially when chewing solid foods. A Speech and Language Therapists can assist with this.

 

Many individuals with SMS have some degree of a learning disability, ranging from mild to severe. Most show moderate levels of learning disability. Speech development is markedly delayed in particular their ability to express themselves.

 

On a positive side, children with SMS are frequently describe as loving and caring, eager to please and with a good sense of humour. They like adult attention and enjoy interacting with adults. Children with Smith-Magenis Syndrome tend to be friendly and outgoing. They have a great sense of humour and an eagerness to please. At the same time aggression, tantrums, repetitive behaviours, attention deficits, and attention seeking behaviours can be quite common. Self-injurious behaviours can be extreme in some cases and may include head banding, hand biting and skin picking. Some children fulfil the diagnostic criteria for autism. Sleep problems tend to be common.

 

Information copied from Smith-Magenis Syndrome Foundation UK

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