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{{Infobox_Disease | Name = {{PAGENAME--> |
Image = |
Caption = |
DiseasesDB = 10481 |
ICD10 = {{ICD10|Q|87|1|q|80--> |
ICD9 = {{ICD9|759.81--> |
ICDO = |
OMIM = 176270|
MedlinePlus = |
eMedicineSubj = ped |
eMedicineTopic = 1880 |
MeshID = D011218 |
-->
Prader-Willi syndrome (abbreviated
PWS) is a
genetic disorder, in which seven genes (or some subset thereof) on
chromosome 15 (human) are missing or unexpressed (
chromosome 15q partial deletion) on the paternal chromosome. It was first described in
1956 by Andrea Prader, Heinrich Willi, Alexis Labhart, Andrew Ziegler, and Guido Fanconi of
Switzerland. The incidence of PWS is between 1 in 12,000 and 1 in 15,000 live births. The distinction of chromosome by parental origin is due to Genomic Imprinting and PWS has the sister syndrome
Angelman Syndrome that affects maternally imprinted genes in the region.
PWS is characterized by
polyphagia and food preoccupations, as well as small stature and learning difficulties.
Traditionally, PWS was diagnosed by clinical presentation. Currently, the syndrome is diagnosed through genetic testing, and is recommended for newborns with pronounced hypotonia. Early diagnosis of PWS allows for early intervention as well as the early prescription of growth hormone. Daily recombinant growth hormone (GH) injections are indicated for children with PWS. GH supports linear growth and increased muscle mass, and may lessen food preoccupation and weight gain.
Diagnosis/testing
PWS should be considered when presented with a hypotonic (floppy) newborn. Accurate consensus clinical diagnostic criteria exist, but the mainstay of diagnosis is
genetic testing, specifically DNA-based methylation testing to detect the absence of the paternally contributed Prader-Willi syndrome/
Angelman syndrome syndrome (PWS/AS) region on
chromosome 15q11-q13. Such testing detects over 97% of patients. Methylation-specific testing is important to confirm the diagnosis of PWS in all individuals, but especially those who are too young to manifest sufficient features to make the diagnosis on clinical grounds or in those individuals who have atypical findings.
PWS phenotype
Clinical Features And SignsHolm
et al (1993) describe the following features and signs as pretest indicators of PWS, although not all will be present.
In Utero:
- Reduced foetal movement
- Frequent abnormal foetal position
At Birth:
- Often breach or caesarian births
- Lethargy
- Hypotonia
- Feeding difficulties (due to poor muscle tone affecting sucking reflex)
- Difficulties establishing respiration
- Hypogonadism
Infancy:
- Failure to thrive (continued feeding difficulties)
- Delayed milestones/intellectual delay
- Excessive sleeping
- Strabismus
- Scoliosis (often not detected at birth)
Childhood:
- Speech delay
- Poor physical coordination
- Hyperphagia (over-eating) from age 2 - 4 years. Note change from feeding difficulties in infancy)
- Excessive weight gain
Adolescence:
- Delayed puberty
- Short stature
- Obesity
Adulthood:
- Infertility (males and females)
- Hypogonadism
- Sparse pubic hair
- Obesity
- Hypotonia
- Learning disabilities/borderline intellectual functioning (but some cases of average intelligence)
- Proneness to diabetes mellitus
General physical appearance (adults)
- Prominent nasal bridge
- Small hands and feet
- Soft skin, which is easily bruised
- Excess fat, especially in the central portion of the body
- High, narrow forehead
- Almond shaped eyes with thin, down-turned lips
- Light skin and hair relative to other family members
- Lack of complete sexual development
- Always picking at their skin
- Stria
- Delayed motor development
Genetics
PWS is caused by the deletion of the paternal copies of the Genomic imprinting SNRPN gene and necdin gene on
chromosome 15 (human) located in the region 15q11-13 http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176270. This so-called PWS/AS region may be lost by one of several genetic mechanisms which, in the majority of instances occurs through chance mutation. Other less common mechanisms include;
uniparental disomy, sporadic
mutations, chromosome
translocations, and gene deletions. Due to imprinting, the maternally inherited copies of these genes are virtually silent, only the paternal copies of the genes are expressed. PWS results from the loss of paternal copies of this region. Deletion of the same region on the maternal chromosome causes
Angelman syndrome (AS). PWS and AS represent the first reported instances of imprinting disorders in humans.
The risk to the sibling of an affected child of having PWS depends upon the genetic mechanism which caused the disorder. The risk to siblings is
{{Infobox_Disease | Name = {{PAGENAME--> |
Image = |
Caption = |
DiseasesDB = 10481 |
ICD10 = {{ICD10|Q|87|1|q|80--> |
ICD9 = {{ICD9|759.81--> |
ICDO = |
OMIM = 176270|
MedlinePlus = |
eMedicineSubj = ped |
eMedicineTopic = 1880 |
MeshID = D011218 |
-->
Prader-Willi syndrome (abbreviated
PWS) is a genetic disorder, in which seven genes (or some subset thereof) on chromosome 15 (human) are missing or unexpressed (
chromosome 15q partial deletion) on the paternal chromosome. It was first described in
1956 by Andrea Prader, Heinrich Willi, Alexis Labhart, Andrew Ziegler, and
Guido Fanconi of Switzerland. The incidence of PWS is between 1 in 12,000 and 1 in 15,000 live births. The distinction of chromosome by parental origin is due to
Genomic Imprinting and PWS has the sister syndrome
Angelman Syndrome that affects maternally imprinted genes in the region.
PWS is characterized by
polyphagia and food preoccupations, as well as small stature and
learning difficulties.
Traditionally, PWS was diagnosed by clinical presentation. Currently, the syndrome is diagnosed through genetic testing, and is recommended for newborns with pronounced
hypotonia. Early diagnosis of PWS allows for early intervention as well as the early prescription of growth hormone. Daily recombinant growth hormone (GH) injections are indicated for children with PWS. GH supports linear growth and increased muscle mass, and may lessen food preoccupation and weight gain.
Diagnosis/testing
PWS should be considered when presented with a hypotonic (floppy) newborn. Accurate consensus clinical diagnostic criteria exist, but the mainstay of diagnosis is genetic testing, specifically DNA-based methylation testing to detect the absence of the paternally contributed Prader-Willi syndrome/Angelman syndrome syndrome (PWS/AS) region on chromosome 15q11-q13. Such testing detects over 97% of patients. Methylation-specific testing is important to confirm the diagnosis of PWS in all individuals, but especially those who are too young to manifest sufficient features to make the diagnosis on clinical grounds or in those individuals who have atypical findings.
PWS phenotype
Clinical Features And SignsHolm
et al (1993) describe the following features and signs as pretest indicators of PWS, although not all will be present.
In Utero:
- Reduced foetal movement
- Frequent abnormal foetal position
At Birth:
- Often breach or caesarian births
- Lethargy
- Hypotonia
- Feeding difficulties (due to poor muscle tone affecting sucking reflex)
- Difficulties establishing respiration
- Hypogonadism
Infancy:
- Failure to thrive (continued feeding difficulties)
- Delayed milestones/intellectual delay
- Excessive sleeping
- Strabismus
- Scoliosis (often not detected at birth)
Childhood:
- Speech delay
- Poor physical coordination
- Hyperphagia (over-eating) from age 2 - 4 years. Note change from feeding difficulties in infancy)
- Excessive weight gain
Adolescence:
- Delayed puberty
- Short stature
- Obesity
Adulthood:
- Infertility (males and females)
- Hypogonadism
- Sparse pubic hair
- Obesity
- Hypotonia
- Learning disabilities/borderline intellectual functioning (but some cases of average intelligence)
- Proneness to diabetes mellitus
General physical appearance (adults)
- Prominent nasal bridge
- Small hands and feet
- Soft skin, which is easily bruised
- Excess fat, especially in the central portion of the body
- High, narrow forehead
- Almond shaped eyes with thin, down-turned lips
- Light skin and hair relative to other family members
- Lack of complete sexual development
- Always picking at their skin
- Stria
- Delayed motor development
Genetics
PWS is caused by the deletion of the paternal copies of the Genomic imprinting SNRPN gene and necdin gene on
chromosome 15 (human) located in the region 15q11-13 http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176270. This so-called PWS/AS region may be lost by one of several genetic mechanisms which, in the majority of instances occurs through chance mutation. Other less common mechanisms include; uniparental disomy, sporadic mutations, chromosome translocations, and gene deletions. Due to imprinting, the maternally inherited copies of these genes are virtually silent, only the paternal copies of the genes are expressed. PWS results from the loss of paternal copies of this region. Deletion of the same region on the maternal chromosome causes Angelman syndrome (AS). PWS and AS represent the first reported instances of imprinting disorders in humans.
The risk to the sibling of an affected child of having PWS depends upon the genetic mechanism which caused the disorder. The risk to siblings is
Welcome to the Prader-Willi Syndrome Association (UK) web site
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Prader-Willi Syndrome Association (UK)
Welcome to the PWSA (UK) website . Welcome to the PWSA (UK) website We are a registered charity (no. 284583), and the only organisation in the UK which is dedicated to supporting ...
BBC - Health - Conditions - Prader-Willi syndrome
A guide to Prader-Willi syndrome ... Prader-Willi syndrome. Dr Trisha Macnair. Prader-Willi syndrome (PWS) is a chromosomal disorder with symptoms that include learning ...
Prader-Willi syndrome : Background - Contact a Family Directory
Contact a Family is a UK charity for families with disabled children. We offer information on specific conditions and rare disorders.
Prader-Willi Syndrome
Prader-Willi Syndrome - Andra Prader first described this syndrome in 1956. It is also known as Prader-Labhart-Willi syndrome as they were the 3 names on the original paper.1
MedlinePlus: Prader-Willi Syndrome
Prader-Willi Syndrome ... National Institutes of Health. The primary NIH organization for research on Prader-Willi Syndrome is the National Institute of Child Health ...
MedlinePlus Medical Encyclopedia: Prader-Willi syndrome
Definition Prader-Willi syndrome is a congenital (present from birth) disease that involves obesity, decreased muscle tone, decreased mental capacity, and sex glands that ...
The Prader-Willi Syndrome Association (UK)
Information and resources about this chromosomal disorder.
Prader-Willi Syndrome
Diagnostic criteria for prader-Willi Syndrome ... Prader-Willi Syndrome. Prader-Willi Syndrome (PWS) is an inherited disorder genetic disorder which is generally ...
Definition: prader-willi syndrome from Online Medical Dictionary
The Online Medical Dictionary is a searchable dictionary of definitions from medicine, science and technology.
