Prader Willi Syndrome
A genetic disorder with developmental, endocrine, and behavioral features
Overview
Prader Willi Syndrome is a genetic disorder characterized by low muscle tone, feeding difficulties in infancy, excessive eating and obesity in childhood, developmental delay, intellectual disability, behavioral challenges, and hormone-related problems.
Symptoms & Signs
- Low muscle tone and feeding difficulties during infancy
- Excessive eating and obesity during childhood
- Developmental delay
- Intellectual disability
- Behavioral issues such as tantrums and compulsive behaviors including skin picking
- Hypogonadism, genital hypoplasia, incomplete pubertal development, and infertility
- Short stature with small hands and feet
- Strabismus and scoliosis
- Distinctive facial features such as a large forehead, narrow face, almond-shaped eyes, downturned corners of the mouth, small jawbone (micrognathia), and dysplastic ears
- Hypothyroidism
- Adrenal insufficiency
- Sleep disorders
- Hypopigmentation with lighter hair, skin, and eye color compared with other family members
Diagnosis
DNA methylation analysis is usually the best initial test when Prader Willi Syndrome is suspected. It can detect the chromosome 15-related genetic change responsible for the syndrome with over 99% accuracy.
Treatment & Management
Management is supportive and requires coordinated multidisciplinary care. A team of healthcare specialists may include an ophthalmologist, orthopedist, endocrinologist, nutritionist, pediatrician, physiotherapist, and genetic counselor.
Living With Prader Willi Syndrome
Most individuals with Prader Willi Syndrome are the only affected member of their family and usually have the condition because of a new mutation. In most families, recurrence risk is less than 1%. Long-term care focuses on nutrition, hormone and growth monitoring, developmental support, mobility, and behavioral management with regular specialist follow-up.
Resources & Support
- Ophthalmology, endocrinology, orthopedics, nutrition, and physiotherapy support
- Pediatric follow-up and developmental services
- Genetic counseling for families
- Reliable information from GeneReviews and MedlinePlus
Inheritance
Individuals with Prader Willi Syndrome are typically the only affected member of their families and have the disorder because of a new (de novo) mutation. The vast majority of families have a recurrence risk of less than 1%.
Prevalence
Prader Willi Syndrome occurs in around 1 child in every 15,000 births. It affects males and females with equal frequency and affects all races and ethnicities.
Management Team
- Eye specialist (ophthalmologist).
- Bone and joint specialist (orthopedist).
- Hormone specialist (endocrinologist).
- Nutrition expert (nutritionist).
- Child health doctor (pediatrician).
- Movement specialist (physiotherapist).
- Genetic counselor.
Credits
- Written by: Khawla Ben Yahia, MBBS.
- Reviewed by: Dr. Ayman W. El-Hattab, MD, FAAP, FACMG.
References
- Driscoll DJ, Miller JL, Cassidy SB. Prader-Willi Syndrome. GeneReviews. Updated 2024 Dec 5. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1330/
- Hurren, Bradley J., and Natasha AMS Flack. "Prader-Willi Syndrome: A spectrum of anatomical and clinical features." Clinical Anatomy 29.5 (2016): 590-605.
- Dhingra, Habet. "What is Prader-Willi syndrome? A clear explanation of PWS symptoms, causes, diagnosis, genetics, treatments & research." Foundation for Prader-Willi Research (2023). Available from: https://www.fpwr.org/what-is-prader-willi-syndrome#definition.
- MedlinePlus Genetics. "Prader Willi Syndrome." National Library of Medicine (2022). Available from: https://medlineplus.gov/genetics/condition/prader-willi-syndrome/.
Disclaimer: This information is for educational purposes only and should not replace professional medical advice. Always consult with qualified healthcare providers for diagnosis and treatment.