The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Delayed speech and language development||90%|
|Failure to thrive in infancy||90%|
|Growth hormone deficiency||90%|
|Specific learning disability||90%|
|Attention deficit hyperactivity disorder||75%|
|Abnormality of chromosome segregation||50%|
|Abnormality of dental enamel||50%|
|Abnormality of the palate||50%|
|Almond-shaped palpebral fissure||50%|
|Clinodactyly of the 5th finger||50%|
|Decreased muscle mass||50%|
|Delayed skeletal maturation||50%|
|Downturned corners of mouth||50%|
|Hypoplasia of penis||50%|
|Hypoplasia of the ear cartilage||50%|
|Hypoplastic labia minora||50%|
|Intrauterine growth retardation||50%|
|Narrow nasal bridge||50%|
|Recurrent respiratory infections||50%|
|Single transverse palmar crease||50%|
|Type I diabetes mellitus||50%|
|Hypopigmentation of hair||33%|
|Hypopigmentation of the skin||33%|
|Impaired pain sensation||33%|
|Type II diabetes mellitus||25%|
|Frontal upsweep of hair||7.5%|
|Poor fine motor coordination||7.5%|
|Radial deviation of finger||7.5%|
|Upslanted palpebral fissure||7.5%|
|Decreased fetal movement||-|
|Poor gross motor coordination||-|
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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These 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.
GARD Information Navigator
May 10, 2016
Funding Opportunity from FPWR in Prader-Willi Research
July 28, 2014
Prader-Willi Syndrome Research Strategy Workshop
Sunday, November 15, 2009 -
Tuesday, November 17, 2009
Location: NIH campus, Bethesda, MD
Description: Workshop participants identified gaps in knowledge, prioritized basic and clinical research questions, identified existing resources that can be applied to Prader-Willi syndrome (PWS) research, identified needed resources and technologies, established cross-disciplinary and multidisciplinary collaborations, formulated a framework for advancing PWS research, and provided a published report of a comprehensive research strategy for PWS.
Contact: Ms. Karen Salomon, firstname.lastname@example.org
Co-funding Institute(s): National Institute of Diabetes and Digestive and Kidney Diseases
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
I'm pregnant and my brother has Prader-Willi syndrome. What is the chance of my child having the same condition? Can it be hereditary and can I test for it before my child is born? See answer
My foster child will be tested for Prader-Willi syndrome, but has a very high IQ. Is it possible for people with Prader-Willi to have high IQs? See answer
Does the menstrual cycle happen earlier in Prader-Willi syndrome? See answer
For individuals with Prader Willi syndrome, how does this condition affect their lives when they get older? See answer