Physical Features
Individuals with Prader-Willi Syndrome often have distinct physical features.
- Almond-shaped eyes (Eyes turned inward and upward, nearsightedness)
- Longer head than normal (Dolichocephaly)
- Narrow forehead
- Narrow nose
- Small jawbone
- Small mouth
- High-arched palate
- Down-turned lips
- Thick saliva
- Small hands and feet
- Short stature
- Skin sores from constant picking
Other Characteristics
In Infancy:
- Low muscle tone (hypotonia)
- Poor feeding and sucking
- Poor weight gain (failure to thrive)
- Reduction of genital growth and hormone secretion
- Diminished deep tendon reflexes (little reflexes)
- Abnormal, squeaky, weak cry
- Fetal inactivity (in utero)
- Lethargy
After Infancy:
- Excessive hunger (Hyperphagia)
- Severe obesity if no severe intervention
- Loss of skin color
- High pain threshold
- Inability to control body temperature
- Osteoporosis
- Chronic underventilation of the lungs (Kyphoscoliosis)
Other Disabilities Associated with PWS
Prader-Willi Syndrome is always accompanied by delays or disabilities.
- Mild to moderate mental retardation
- Hypothalamic insufficiency (part of the brain that regulates certain body functions)
- Obsessions
- Compulsions
- Mood swings
- Depression
- Sleep disturbance/ sleep apnea
- Speech articulation defects
These characteristics are all taken from "Atlas of Genetic Diagnosis and Counseling" by Harold Chen.
Chen, H. (2006). Prader-willi syndrome. Atlas of Genetic Diagnosis and Counseling, 1, 1723-1734. doi: 10.1007/978-1-4614-1037-9_196
Chen, H. (2006). Prader-willi syndrome. Atlas of Genetic Diagnosis and Counseling, 1, 1723-1734. doi: 10.1007/978-1-4614-1037-9_196