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Pallister-Killian syndrome

What are the symptoms?

The major symptoms of PKS include a characteristic facial appearance, learning difficulties, seizures (see entry, epilepsy), loss of muscle tone (hypotonia) and streaks of skin in which there is no colour (hypopigmentation) or darker skin colour than normal (hyperpigmentation) anywhere on the body. Individuals may show some or all of these features and, in addition, may be differently affected in the severity of their symptoms.

Typically individuals with PKS have a high forehead, sparse hair on the temple region of the scalp and eyebrows, an abnormally wide space between the eyes, a fold of skin over the inner corner of the eyes and a flat nose.

At birth infants with PKS are profoundly hypotonic (floppy) and this may persist into later life. Between the ages of five to ten years, children may have stiffness of joints (contractures). Children are almost always developmentally delayed with learning difficulties and minimal speech. Seizures may occur during infancy. Difficulties with vision (see entry, visual impairment) and hearing (see entry, deafness) may also occur. Affected individuals usually have to go to special schools and may not be able to live independently as adults.

A number of other features may be associated with PKS including congenital heart defects, gastro-oesophageal reflux (see entry, Gut Motility Disorders), cataracts and extra nipples. Diaphragmatic problems may occur in newborn babies with PKS, and in these cases babies may die shortly after birth, although some cases can be treated with operations. Because PKS is rare, it is not easily diagnosed.

View Background Background  |  Inheritance patterns and prenatal diagnosis View Inheritance patterns and prenatal diagnosis

Medical text written September 2002 by Contact a Family. Approved July 2002 by Professor R Hennekam. Last updated July 2007 by, Professor R Hennekam , Professor in Clinical Genetics and Dysmorphology, Institute of Child Health, London, UK.

 

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