Prader-Willi Syndrome
What is Prader-Willi Syndrome?
Prader-Willi Syndrome (PWS) is a genetic disorder resulting from the loss or inactivation
of genes in a region of paternal chromosome 15 or the inheritance of 2 copies of chromosome 15 from an individual's mother called uniparental disomy. [1] This disorder is very rare and occurs in approximately 1/15,000 births. [2] The specific genes lost include those that code for small nucleolar RNA or snoRNA. The primary function of snoRNAs is to assist in the chemical modification of other RNA molecules that lead to the production of important proteins. [1] Thus, the lack of assistance from specific snoRNA molecules can lead to a variety of symptoms that characterize this genetic disorder.
Image by Joanna ATX, licensed under CC BY-SA 3.0.
Symptoms of Prader Willi
Symptoms of Prader-Willi Syndrome vary and can be present from birth or appear during
early childhood [3]. Symptoms typically present from birth include hypotonia or decreased
skeletal muscle tone. This decrease in muscle tone can negatively affect certain primitivereflexes including the sucking reflex, which can greatly reduce the amount of nutrients a baby is able to consume especially when breast feeding. Infants born with Prader- Willi can also display abnormal physical features including small genitalia, almond shaped eyes, and a turned down mouth. [3]. Symptoms that may appear later in life include increased weight gain from food cravings and certain cognitive impairments that cause difficulty in problem solving and learning. Hypogonadism is another serious symptom of PWS, where the gonads do not fully develop, leading to stunted physical development of secondary sex characteristics and the possibility of infertility, where in most cases a female is unable to become pregnant.
How is Prader-Willi Treated?
Prader Willi syndrome can be managed in a variety of different ways. For instance,
special tubes have been manufactured to aid in a newborn's ability to feed. Additionally, there
has been practices of extensive food intake monitoring to ensure that newborns are growing
properly. Individuals with PWS can also undergo growth hormone therapy, which helps increase muscle mass, height, and mobility. [4] Various therapies including behavioral, and physical therapies can aid in an individual with PWS to manage emotions and help with movement skills. Additionally, there have been studies testing medication that aid in managing symptoms of hyperphagia or an extreme desire to eat. This medication is known as Vykat XR, which functions through hyperpolarizing hypothalamic neurons that aid in expressing Neuropeptide Y, a protein that suppresses appetite.[5] Additional clinical trials show that this medication is capable of reducing anxiety and compulsive behaviors.Overall, it is important to recognize certain behaviors and deficiencies associated with
PWS, and take measures to decrease certain compulsions and negative emotions to ensure that those with PWS are able to live without any difficulty or distress.
References
[1] National Library of Medicine. (2022, May 13). Prader-Willi syndrome. MedlinePlus
Genetics. https://medlineplus.gov/genetics/condition/prader-willi-syndrome/. Accessed
09/25/2026.
[2] Foundation for Prader-Willi Research. (2026). What is Prader-Willi syndrome?
https://www.fpwr.org/what-is-prader-willi-syndrome. Accessed 09/25/2026.
[3]Mayo Clinic Staff. (2024, November 14). Prader-Willi syndrome—Symptoms and causes.
Mayo Clinic.
355997. Accessed 09/25/2026.
[4]National Institute of Child Health and Human Development. (2021, December 29). What are
the treatments for Prader-Willi syndrome (PWS)? National Institutes of Health. NICHD
Treatments for Prader-Willi syndrome. Accessed October 1st, 2026.
[5]Pokhrel, P., Noorul, H. S., Fatima, L., Kumar, A., Abdul Samad, A., & Ferrer, G. F. (2026).
Vykat XR (diazoxide choline-extended release): A new FDA-approved treatment for
hyperphagia in Prader-Willi syndrome. Accessed October 1st, 2026.
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