Prader–willi syndrome
Prader–Willi Syndrome

Prader–Willi Syndrome: Definition, 13 Symptoms, Causes, and Treatment

Prader–Willi Syndrome Definition

Prader-Willi Syndrome is one of the genetic diseases caused by a disorder of chromosome 15, causing abnormalities in many systems in the body of the person. The disease was first presented by Langdon Down in the late 1800s. The name of the disease comes from Andrea Prader, Heinrich Willi, and Alexis Labhart who explained the disease in more detail in 1956.

In general, this disorder has several characteristics, such as a reduced fetal activity during pregnancy, hypotonia, mental retardation, obesity, short stature, hypogonadism, strabismus, and small size of hands and feet.

This syndrome can affect both men and women in different ethnic groups. However, it is reported that in the black race has slightly different characteristics to whites. The disease is also referred to as Prader-Labhart-Willi Syndrome or PWS.

Prader–Willi Syndrome Symptoms

Prader-Willi syndrome can cause abnormalities in the physical and intelligence, as well as hormonal disorders in sufferers. The disorder will change as the sufferer grows. Here’s the explanation:

Symptoms in infants

Signs and symptoms of Prader-Willi syndrome can be seen from the moment the baby is born. Symptoms include:

  • Facial deformities, namely strange eye shape, thin upper lip, narrow temples, and the shape of the mouth that goes down like a frown.
  • The pe**nis and testi**cles of a baby boy are smaller than normal. The testi**cles also do not descend into the testi**cles. While in baby girls, the clito**ris and labia minora are smaller than normal.
  • Weak muscles, as seen from the poor ability to suck breast milk, do not respond to stimuli, and the sound of crying sounds weak.

Symptoms in children and older persons

With age, the symptoms of Prader-Willi syndrome will change. The following are the symptoms that appear in children and older persons:

  • Children’s speech skills are hampered, such as not being able to pronounce words properly.
  • Late standing and walking, because his motor development is hampered.
  • Physical abnormalities, i.e. Short stature, small limbs, abnormal spinal curvature, and visual impairment.
  • The child always feels hungry, so his weight rises quickly.
  • Small muscles and high body fat levels.
  • The development of se**xual organs is inhibited, so puberty is late and difficult to get offspring.
  • Cognitive impairment, i.e. difficulty in solving problems, thinking, and learning.
  • Behavioral disorders, such as stubbornness, irritability, obsessive compulsive behavior, as well as anxiety disorders.
  • Sleep disorders, both abnormal sleep cycles and sleep apnea.
  • Insensitive to pain.

Prader–Willi Syndrome Cause

Prader Willi syndrome is a genetic disorder, a condition caused by error in one or more genes.

In fact, the genes that cause Prader Willi syndrome have not been clearly identified. However, the most likely problem lies in a specific part of the 15th chromosome.

The presence of problems in chromosome 15 can cause disruption to the normal functioning of the brain called the hypothalamus.

The hypothalamus is the part of the brain that is responsible for controlling hunger, thirst, and secreting hormones responsible for the growth and the se**xual development of children.

The hypothalamus is not functioning perfectly because abnormalities in chromosome 15 will hinder these processes.

This is what makes children with Prader Willi syndrome feel uncontrollable hunger, stunted body, se**xual retardation, and other characteristics.

Prader–Willi Syndrome Treatment

Prader-Willi syndrome is incurable. The treatment aims to overcome the symptoms that occur and help the child to be able to do daily activities optimally.

What needs special attention is the handling of overeating that generally occurs when the child is 1–6 years old. Parents should provide healthy foods for children, such as fruits and vegetables to prevent children from being obese.

To improve the growth and development of the child, the doctor will often also give injections of growth hormone since infancy.


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Last Updated on July 7, 2021 Reviewed by Market Health Beauty Team


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