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Disease Profile
Prader-Willi syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
Neonatal
ICD-10
Q87.1
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
PWS; Willi-Prader syndrome; Prader-Labhart-Willi syndrome
Categories
Congenital and Genetic Diseases; RDCRN
Summary
Prader-Willi
Symptoms
Other signs and symptoms of PWS may include:[2][1]
- mild to moderate
intellectual disability - sleep abnormalities
- unusually fair skin
- underdeveloped genitals
- delayed or incomplete puberty
short stature strabismus scoliosis - small hands and feet
- distinctive facial features such as a narrow forehead, almond-shaped eyes, and a triangular mouth
Behavioral problems are common and often include temper tantrums, stubbornness, and obsessive-compulsive tendencies.[2][1]
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
||
---|---|---|---|---|
80%-99% of people have these symptoms | ||||
Central hypotonia | 0011398 | |||
Cryptorchidism |
Undescended testis
Undescended testes
[ more ] |
0000028 | ||
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech delay
Speech and language difficulties
[ more ] |
0000750 | ||
Failure to thrive in infancy |
Faltering weight in infancy
Weight faltering in infancy
[ more ] |
0001531 | ||
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 | ||
Global |
0001263 | |||
Growth |
0000824 | |||
Hypogonadotropic |
0000044 | |||
Infertility | 0000789 | |||
Motor delay | 0001270 | |||
Narrow palm | 0004283 | |||
Polyphagia |
Voracious appetite
|
0002591 | ||
Poor suck |
Poor sucking
|
0002033 | ||
Short foot |
Short feet
Small feet
[ more ] |
0001773 | ||
Short palm | 0004279 | |||
Short stature |
Decreased body height
Small stature
[ more ] |
0004322 | ||
Specific learning disability | 0001328 | |||
30%-79% of people have these symptoms | ||||
Abdominal obesity |
Central obesity
|
0012743 | ||
Abnormal facial shape |
Unusual facial appearance
|
0001999 | ||
Abnormal rapid eye movement sleep | 0002494 | |||
Almond-shaped palpebral fissure |
Almond shaped eyes
Almond-shaped opening between the eyelids
[ more ] |
0007874 | ||
Attention deficit hyperactivity disorder |
Attention deficit
Childhood attention deficit/hyperactivity disorder
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
[ more ] |
0007018 | ||
Brain |
0410263 | |||
Central adrenal insufficiency | 0011734 | |||
Central sleep apnea | 0010536 | |||
Clitoral hypoplasia |
Small clitoris
Underdeveloped clit
[ more ] |
0000060 | ||
Cutaneous photosensitivity |
Photosensitive skin
Photosensitive skin rashes
Photosensitivity
Sensitivity to sunlight
Skin photosensitivity
Sun sensitivity
[ more ] |
0000992 | ||
Decreased circulating gonadotropin level | 0030339 | |||
Decreased fetal movement |
Less than 10 fetal movements in 12 hours
|
0001558 | ||
Decreased muscle mass | 0003199 | |||
Decreased testicular size |
Small testes
Small testis
[ more ] |
0008734 | ||
Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] |
0000823 | ||
0000819 | ||||
Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ] |
0002714 | ||
Edema |
Fluid retention
Water retention
[ more ] |
0000969 | ||
Erysipelas | 0001055 | |||
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 | ||
Gastroparesis |
Delayed gastric emptying
|
0002578 | ||
Hypogonadism |
Decreased activity of gonads
|
0000135 | ||
Hypopigmentation of hair |
Loss of hair color
|
0005599 | ||
Hypopigmentation of the skin |
Patchy lightened skin
|
0001010 | ||
Hypoplastic labia majora |
Small labia majora
Underdeveloped vaginal lips
[ more ] |
0000059 | ||
Hypoplastic labia minora |
Underdeveloped inner lips
|
0000064 | ||
Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ] |
0001265 | ||
Impaired pain sensation |
Decreased pain sensation
|
0007328 | ||
Impaired temperature sensation |
Abnormality of temperature sensation
Loss of temperature sensation
[ more ] |
0010829 | ||
Increased |
Abnormal susceptibility to fractures
Bone fragility
Frequent broken bones
Increased bone fragility
Increased tendency to fractures
[ more ] |
0002659 | ||
Intellectual disability, borderline |
Mental retardation, borderline
|
0006889 | ||
Intellectual disability, mild |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] |
0001256 | ||
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 | ||
Micropenis |
Short penis
Small penis
[ more ] |
0000054 | ||
Narrow forehead |
Decreased width of the forehead
|
Cause Prader-Willi
About 70% of cases of PWS occur when a person is missing specific genes on the long arm of the paternal copy of chromosome 15. This is called a In about 25% of cases, PWS is due to a person inheriting only 2 maternal copies of chromosome 15, instead of one copy from each parent. This is called maternal uniparental disomy. Rarely (in about 2% of cases), PWS is caused by a rearrangement of chromosome material called a Each of these genetic changes result in a loss of gene function on part of chromosome 15, likely causing the characteristic features of PWS.[1] Diagnosis There are clinical diagnostic criteria for Prader-Willi
However, the current mainstay of a diagnosis when PWS is suspected is a form of Testing Resources
Treatment A multidisciplinary team approach is ideal for the treatment of people with Prader-Willi
When a diagnosis of PWS is made, several evaluations are needed to assess the extent of the condition. For example, newborns should be assessed for sucking problems; infants should be assessed for development; and young children should have a vision exam. All males should be evaluated for the presence of cryptorchidism. Other associated conditions for which evaluations may be recommended include hypothyroidism, In infants, special feeding techniques may be needed. Young children often need early intervention, including Growth hormone treatment can normalize height, increase lean body mass, increase mobility, and decrease fat mass. Controlled trials of growth Management Guidelines
FDA-Approved TreatmentsThe medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
Related diseasesRelated diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
OrganizationsSupport and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Organizations Supporting this Disease
Learn moreThese resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Where to Start
In-Depth Information
References
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