Prader Willi Syndrome – Pictures, Symptoms, Life Expectancy

What is Prader Willi syndrome?

Prader Willi syndrome is associated with genetic disorders. Abnormality occurs on the 15th chromosome without having any certain reason. This is a rare syndrome, which is observed in early childhood. Clinician and medical researcher Prader, first identified a series of cases with this specific abnormality in 1956.

prader willi syndrome genetics

The syndrome is characterized by severe obesity, which becomes fatal for sufferers. Impaired physical and cognitive health is common in Prader Willi syndrome. It is not a gender specific disorder, both male and female can affect. There are various reasons for abnormality occurs on the 15th chromosome which may be due to missing of the specific chromosome (15th) or loss of functionality or inactivation of the gene during mutation.


Figure 1 – Genetics/Cause of PWS

Prader Willi Syndrome Symptoms

Prader Willi syndrome sufferers have developed a constant eating habit at their early age of life, as their hunger is not satisfied or can be indicated as voracious appetite which causes hyperphagia (chronic overeating) and leads to obesity.

Some typical symptoms associated with Prader Willi syndrome for children are

  • Hypotonia (weak muscle tone),
  • feeding complications
  • growth reduction and
  • Delayed development

prader willi syndrome symptomsIndividual with Prader Willi syndrome has some unique appearance features which include contracted forehead, almond shaped eyes, and a cone shaped mouth; short physique; and palm and feet are undersized. Some individuals with Prader-Willi syndrome have extraordinarily fair skin and hair colour also lighter than the normal.

People with Prader Willi syndrome have cognitive health impairment which affects intellectual and learning capacity. Behavioural abnormalities are also linked with Prader Willi syndrome and characterized as

  • High temperament
  • Uncontrolled emotion
  • Easy outbursts of anger
  • Obstinacy and
  • Obsessive
  • Sleep disturbance
  • Impotent due to underdeveloped sex organs

Prader Willi Syndrome Genetics

Prader Willi syndrome is a genetic disorder which is based on abnormalities in genetic imprinting on the parent source. The specific genetic region is identified for development of the abnormal condition is on 15th chromosomal space. Except sex chromosomes, all other chromosomes are inherited from parents.  One pair comes from father (paternal gene) and one pair comes from mother (maternal gene). Both copied genes are active, but some chromosomes are singularly active like if the paternal gene is active then the maternal gene is inactive. In Prader Willi syndrome, some paternal gene at the position of 15th chromosomal region is not activated because

  • Absence of Paternal genes on 15th  chromosomal region
  • Only imprinting occurs from maternal gene and involvement of paternal gene is  absent
  • Defective paternal genes on chromosome 15

Any of these abnormalities causes a functional obstruction which mainly affects hypothalamus activity in the brain. The normal regulatory functioning of the hypothalamus is hunger and thrust restriction. The suffered children do not control their hunger due to malfunction of the hypothalamus. Other symptoms like underdeveloped reproductive organs or growth retardation is also due to under activity of the hypothalamus.

Prader Willi Syndrome Treatment

Physical examination and blood test help to determine the abnormalities, but for confirmation genetic test is required to detect the Prader-Willi syndrome.

Prader-Willi syndrome is a non curable disease, proper diagnosis and early commencement of treatment is beneficial for improving the quality of life of the individual suffers from Prader-Willi syndrome. Prader-Willi syndrome is associated with multiple complications; proper treatment planning with a team of clinicians is required for managing the conditions. At the early stage of life following care and treatment management is beneficial for children:

  • Balance nutritional feed: Infant or early aged child with Prader-Willi syndrome usually having feeding difficulty because of low muscle tone. Balance nutritional feed with distinct feeding techniques help to maintain the growth of the child, but regular monitoring of body weight is essential.
  • Hormonal treatments: Consultation with an endocrinologist is important as the physical and sexual growth impairment is associated with Prader-Willi syndrome. Sometime doctor recommended growth hormone supplement, as it helps to utilize the food energy and maintain the proper physical growth. Sexual hormone replacement also recommended after a certain age of child and specific hormones like testosterone replacement for male and estrogen and progesterone replacement for females are needed to treat accordingly. These therapies are not applied to all the cases, as long term benefits of hormonal therapy is controversial and it also depends on individual’s requirement.
  • Restricted diet: It is important to restrict the child food habit the proper maintenance of routine and health food supply which mainly contains low fat diet, such as fruits and dietary protein and fibre is important to manage the weight of the child. Weight management is a very important step in case of Prader-Willi syndrome. Consultation with a dietician may be helpful to develop a healthy diet chart for your child. Limited access and strict control of food ingestion required to manage the obesity.
  • Disturbed sleep management is important as most of the irritable behaviour or dizziness is due to the inadequate sleep. For overall development and management of behavioural complication consultation with a psychologist, medications to control the aggressive behaviour and vocational training programs, cognitive health management treatment is important for further betterment of the child future.

prader will syndrome picture

Figure 3

prader will syndrome improvement with treatment

Figure 4

Adult Care

Individual with Prader-Willi syndrome cannot perform their daily life activities by their own, they need support from other to live their entire live. For long term care of such patient require home based care service or community based care provision and in advanced stage shifting to institutional care facility for palliative care service for maintain their healthy restricted diet supply, safe living and able to perform and enjoy activities which they able to perform according to their capacitance.

Prader Willi Syndrome Life expectancy

Prader Willi syndrome is turned to complicated obesity related diseases such as Type 2 diabetes mellitus, cardio-vascular problems. Weight management, regular consultation with clinicians, maintain the follow up visits and good care facilities improve the survival rate and quality of life.



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