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Prader-Willi Syndrome (PWS) is a
rare congenital condition caused by
the lack of the paternally derived
region q11-13 on chromosome 15. It
was first described by Prader,
Labhart and Willi in 1956.
[Prader
1956]
The deletion of multiple and
adjacent gene loci causes multiple,
apparently unrelated, distinct
clinical features including:
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Hypotonia
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Failure to Thrive
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Poor Suck Reflex
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Hyperphagia
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Insatiable Appetite
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Dysmorphic Feature
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Hypogonadism
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Learning Difficulties
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Emotional Instability
The features of PWS tend to alter as
the individual matures and there is
some evidence to show that certain
features are more or less likely
depending on the genetical cause of
the syndrome.
PWS is a complex
condition and therefore requires
management in a Multi-disciplinary
Team (MDT) approach. Management may
be required to address problems such
as eating disorders, learning
difficulties as well as behavioural
and emotional issues. Caring for a
child with PWS can be extremely
difficult so all care givers should
also be offered support and
reassurance. |