Prader-Willi syndrome (patient information): Difference between revisions

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'''Editor-in-Chief:'''  Alexandra M. Palmer
{{CMG}}; '''Assistant Editor-in-Chief:'''  Alexandra M. Palmer


{{EJ}}
==Overview==
 
==What is Prader-Willi  syndrome?==
[[Prader-Willi syndrome]] is a [[congenital]] (present from birth) disease that involves [[obesity]], decreased muscle tone, decreased mental capacity, and sex glands that produce little or no [[hormones]].
[[Prader-Willi syndrome]] is a [[congenital]] (present from birth) disease that involves [[obesity]], decreased muscle tone, decreased mental capacity, and sex glands that produce little or no [[hormones]].


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*Irregular areas of skin that look like bands, stripes, or lines
*Irregular areas of skin that look like bands, stripes, or lines
*Narrow bifrontal skull
*Narrow bifrontal skull
*Rapid weight gain
*Rapid [[weight gain]]
*Skeletal (limb) abnormalities
*Skeletal (limb) abnormalities
*Slow mental development
*Slow mental development
*Small for gestational age
*Small for gestational age
*Undescended testicles in the male infant
*[[Undescended testicles]] in the male infant
*Very small hands and feet in comparison to body
*Very small hands and feet in comparison to body


Affected children have an intense craving for food and will do almost  anything to get it. This results in uncontrollable weight gain and  morbid obesity. Morbid obesity may lead to lung failure with low blood oxygen levels, right-sided heart failure, and death.
Affected children have an intense craving for food and will do almost  anything to get it. This results in uncontrollable weight gain and  morbid [[obesity]]. Morbid obesity may lead to lung failure with low blood oxygen levels, right-sided [[heart failure]], and [[death]].


==What causes Prader-Willi  syndrome?==  
==What causes Prader-Willi  syndrome?==  
Prader-Willi syndrome is caused by a gene missing on part of chromosome 15. Normally, your parents each pass down a copy of this chromosome. Most patients with Prader-Willi syndrome are missing the genetic material on part of the father's chromosome. The remaining patients frequently have two copies of the mother's chromosome 15.
[[Prader-Willi syndrome]] is caused by a [[gene]] missing on part of [[chromosome 15]]. Normally, your parents each pass down a copy of this [[chromosome]]. Most patients with [[Prader-Willi syndrome]] are missing the [[genetic]] material on part of the father's [[chromosome]]. The remaining patients frequently have two copies of the mother's [[chromosome 15]].


==Who is at risk for Prader-Willi  syndrome?==
==Who is at highest risk?==
The genetic changes occur randomly. Patients usually do not have a   family history of the condition.
The genetic changes occur randomly. Patients usually do not have a [[family history]] of the condition.


==How do I  know I  have Prader-Willi  syndrome?==  
==When to seek urgent medical care?==
Signs of Prader-Willi syndrome may be seen at birth. Newborns with the condition are often small  and very floppy. Male infants may have undescended testicles.
Call your [[health care provider]] if your child has [[symptoms]] of this condition. The disorder is frequently suspected at birth.


As the child grows older, laboratory tests may show signs related to  morbid obesity, such as:
==Diagnosis==
Signs of [[Prader-Willi syndrome]] may be seen at birth. Newborns with the condition are often small and very floppy. Male infants may have [[undescended testicles]].


*Abnormal glucose tolerance
As the child grows older, laboratory tests may show signs related to morbid [[obesity]], such as:


*Above normal level of insulin in the blood
*Abnormal [[glucose]] tolerance


*Excessive carbon dioxide levels
*Above normal level of [[insulin]] in the blood


*Failure to respond to luteinizing hormone releasing factor
*Excessive [[carbon dioxide]] levels


*Lack of oxygen supply
*Failure to respond to [[luteinizing hormone]] releasing factor


There may also be signs of right side heart failure and knee and hip  problems.
*Lack of [[oxygen]] supply


==When to seek urgent medical care==
There may also be signs of right side [[heart failure]] and knee and hip problems.
Call your health care provider if your child has symptoms of this  condition. The disorder is frequently suspected at birth.


==Treatment options==  
==Treatment options==  
Obesity represents the greatest problem to health. Limiting caloric intake will control the obesity but the family, neighbors, school, and  other institutions must cooperate closely as the child will attempt to obtain food wherever possible. Exercise can increase lean body mass in children with Prader-Willi syndrome.
[[Obesity]] represents the greatest problem to health. Limiting caloric intake will control the obesity but the family, neighbors, school, and  other institutions must cooperate closely as the child will attempt to obtain food wherever possible. [[Exercise]] can increase lean body mass in children with Prader-Willi syndrome.


Growth hormone has also been shown to improve physical strength and agility in patients with Prader-Willi syndrome. There have been some concerns regarding the effect of GH on lung function in children with this condition. Parents should discuss the possible side effects with the child's doctor.
[[Growth hormone]] has also been shown to improve physical strength and agility in patients with Prader-Willi syndrome. There have been some concerns regarding the effect of GH on lung function in children with this condition. Parents should discuss the possible [[side effects]] with the child's doctor.


A very small penis in the male infant may be corrected with testosterone.
A very small [[penis]] in the male infant may be corrected with [[testosterone]].


Low levels of sex hormones may be corrected at puberty with hormone replacement.
Low levels of [[sex hormones]] may be corrected at [[puberty]] with hormone replacement.


==Where to  find  medical care for Prader-Willi syndrome==
==Where to  find  medical care for Prader-Willi syndrome?==
[http://maps.google.com/maps?f=q&hl=en&geocode=&q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Prader-Willi  syndrome}}}}&sll=37.0625,-95.677068&sspn=65.008093,112.148438&ie=UTF8&ll=37.0625,-95.677068&spn=91.690419,149.414063&z=2&source=embed      Directions to Hospitals Treating Prader-Willi  syndrome]
[http://maps.google.com/maps?f=q&hl=en&geocode=&q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Prader-Willi  syndrome}}}}&sll=37.0625,-95.677068&sspn=65.008093,112.148438&ie=UTF8&ll=37.0625,-95.677068&spn=91.690419,149.414063&z=2&source=embed      Directions to Hospitals Treating Prader-Willi  syndrome]


==Prevention of Prader-Willi  syndrome==
==Prevention==
There is no medical prevention for Prader-Willi syndrome.<ref>http://www.pwsausa.org/faq.htm</ref>
There is no medical prevention for Prader-Willi syndrome.<ref>http://www.pwsausa.org/faq.htm</ref>


==What to  expect  (Outlook/Prognosis)==
==What to  expect  (Outlook/Prognosis)?==
Appropriate education will be needed for the affected person's IQ level.  Weight control will allow for a much more comfortable and healthful  life.
Appropriate education will be needed for the affected person's IQ level.  Weight control will allow for a much more comfortable and healthful  life.


==Possible  complications==  
==Possible  complications==  
*Diabetes
*[[Diabetes]]
*Right-sided heart failure
*[[Right-sided heart failure]]
*Orthopedic problems
*[[Orthopedic]] problems


==Sources==
==Sources==
{{reflist}}
http://www.nlm.nih.gov/medlineplus/ency/article/001605.htm
http://www.nlm.nih.gov/medlineplus/ency/article/001605.htm


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[[Category:Patient Information]]
 
[[Category:Mature chapter]]
[[Category:Disease]]
[[Category:Patient information]]
[[Category:Genetic disorders]]
[[Category:Genetic disorders patient information]]
[[Category:Congenital disorders]]
[[Category:Congenital disorders patient information]]

Latest revision as of 22:29, 9 December 2011

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Assistant Editor-in-Chief: Alexandra M. Palmer

Overview

Prader-Willi syndrome is a congenital (present from birth) disease that involves obesity, decreased muscle tone, decreased mental capacity, and sex glands that produce little or no hormones.

What are the symptoms of Prader-Willi syndrome?

Symptoms may include:

  • Almond-shaped eyes
  • Delayed motor development
  • Floppy newborn infant
  • Insatiable appetite, food craving
  • Irregular areas of skin that look like bands, stripes, or lines
  • Narrow bifrontal skull
  • Rapid weight gain
  • Skeletal (limb) abnormalities
  • Slow mental development
  • Small for gestational age
  • Undescended testicles in the male infant
  • Very small hands and feet in comparison to body

Affected children have an intense craving for food and will do almost anything to get it. This results in uncontrollable weight gain and morbid obesity. Morbid obesity may lead to lung failure with low blood oxygen levels, right-sided heart failure, and death.

What causes Prader-Willi syndrome?

Prader-Willi syndrome is caused by a gene missing on part of chromosome 15. Normally, your parents each pass down a copy of this chromosome. Most patients with Prader-Willi syndrome are missing the genetic material on part of the father's chromosome. The remaining patients frequently have two copies of the mother's chromosome 15.

Who is at highest risk?

The genetic changes occur randomly. Patients usually do not have a family history of the condition.

When to seek urgent medical care?

Call your health care provider if your child has symptoms of this condition. The disorder is frequently suspected at birth.

Diagnosis

Signs of Prader-Willi syndrome may be seen at birth. Newborns with the condition are often small and very floppy. Male infants may have undescended testicles.

As the child grows older, laboratory tests may show signs related to morbid obesity, such as:

  • Above normal level of insulin in the blood

There may also be signs of right side heart failure and knee and hip problems.

Treatment options

Obesity represents the greatest problem to health. Limiting caloric intake will control the obesity but the family, neighbors, school, and other institutions must cooperate closely as the child will attempt to obtain food wherever possible. Exercise can increase lean body mass in children with Prader-Willi syndrome.

Growth hormone has also been shown to improve physical strength and agility in patients with Prader-Willi syndrome. There have been some concerns regarding the effect of GH on lung function in children with this condition. Parents should discuss the possible side effects with the child's doctor.

A very small penis in the male infant may be corrected with testosterone.

Low levels of sex hormones may be corrected at puberty with hormone replacement.

Where to find medical care for Prader-Willi syndrome?

Directions to Hospitals Treating Prader-Willi syndrome

Prevention

There is no medical prevention for Prader-Willi syndrome.[1]

What to expect (Outlook/Prognosis)?

Appropriate education will be needed for the affected person's IQ level. Weight control will allow for a much more comfortable and healthful life.

Possible complications

Sources

http://www.nlm.nih.gov/medlineplus/ency/article/001605.htm

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