Prader-Willi Syndrome

Overview

An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)

This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.

Quick facts about Prader-Willi Syndrome

Topic type

Condition

Category

Neurology

MeSH classification

C10.597.606.360.690|C16.131.077.730|C16.131.260.700|C16.320.180.700|C16.320.447.500|C18.654.726.750.500.740

Preparing for an appointment about Prader-Willi Syndrome

If you are speaking with a healthcare professional about Prader-Willi Syndrome, it can help to prepare a few details in advance.

• Write down your symptoms and when they started.
• Bring details of any medicines, supplements or previous treatments.
• Ask what tests or assessments may be needed.
• Ask what treatment or management options may be suitable.
• Ask when you should seek urgent medical help or follow-up care.

Finding care related to Prader-Willi Syndrome

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