My niece, Charlotte, has Cri du Chat syndrome.

Cri du Chat is a very rare genetic disorder caused by a deletion of a small piece of chromosome 5.  

The name comes from a French term meaning 'cat-cry' or 'call of the cat' as infants with this condition often have a high-pitched cry that sounds like a cat.

The condition is characterised by delayed development and learning disability, small head size, low birth weight and low muscle tone in infancy. Affected individuals also have distinctive facial features and some children with Cri du Chat syndrome are born with a heart defect.

Children with Cri du Chat syndrome are prone to developing recurrent upper respiratory tract infections, middle ear infections and may have dental problems. They are also at increased risk of developing scoliosis (spinal curvature). They can expect to live a normal life-span, though individuals will display differing degrees of reliance on others for daily support.

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