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Prader-Willi Syndrome – Symptoms, Diagnosis, Treatment, Prognosis, Life Expectancy, Pictures

Written by Dr.Mary

What is Prader-Willi Syndrome?

This is an uncommon condition which is existent at birth and can result in numerous mental, behavioral as well as physical problems. A major component of Prader-Willi syndrome is the endless feeling of hunger that normally starts after the age of one.

Individuals with this syndrome constantly need to eat and normally have problems monitoring their weight. Many of the difficulties of Prader-Willi syndrome are because of obesity.

If the child has Prader-Willie syndrome, a specialists team will work with the parents to manage the symptoms the child has as well as reduce any risk of the development of complications.

Prader-Willi Syndrome Symptoms

The symptoms and signs normally happened in 2 stages. Signs and symptoms of this disorder that may be present in the 1st year of life consist of:

Muscle tone that is poor

This is a major sign of this syndrome during infancy – hypotonia. Infants may rest with knees as well as elbows extended loosely rather than fixed and this give the feeling of being floppy or like rag dolls when being held.

Facial features

Those with this syndrome can be born with eyes that are almond-shaped, turned down mouth, narrowing of the head at the temples as well as an upper lip that is thin All facial features which are distinct.

Eye coordination is lacking – Strabismus

The eyes of a child with this syndrome may not interchange together. They can wander to the side or be crossed.

Failure to thrive

Children with this syndrome during the first year can have a sucking reflex that is poor due to muscle tone being decreased. Since poor sucking makes feeding problematic, there will be a trend for slow weight gain.

Overall poor responsiveness

The baby might seem very tired, respond badly to stimulation, have difficulty waking as well as have a cry that is weak.

From the age of one to four, other signs or symptoms will appear. These difficulties will stay present thru out life and careful treatment or management is required. These signs or symptoms may include:

Weight gain and food cravings

The classic signs of this disorder will appear – food craving and rapid gaining of weight. The child with this syndrome is always hungry, consumes large portions of food and eats frequently. They may also be unusual food seeking behaviors such as eating or hoarding food such as frozen food or garbage.

Sex organs that are underdeveloped

A condition known as hypogonadism will occur resulting in underdeveloped organs, incomplete development at puberty as well as infertility in almost all cases. Females may not start periods until 30s or may never have them. Males may not have any facial hair and the voice might not fully deepen.

Poor physical development and growth

Those with Prader-Willi syndrome have very low muscle mass. They also have short feet and hands. When they reach full adult stature, they are normally shorter than other members of the family.

Learning problems

Moderate or mild cognitive impairment is a feature that is common for those with this disorder. Basically all individuals with this syndrome, even without substantial cognitive in capacity, will have disabilities with learning.

Motor development delayed

Toddlers with this syndrome usually reach milestones in movement physically later than other children. For instance, sitting up without help can be late as much as twelve months as well as not walking until 2 years.

Problems with speech

Speech can be delayed until the child is two years old or older. Articulation of words often is an ongoing disability.

Problems with behavior

Children can be very stubborn and throw temper tantrums, particularly when it comes to food being denied. Other mental health problems can develop such as picking at skin.

Disorders sleeping

Some with this syndrome can have problems with sleep, including normal sleep cycle interruptions as well as sleep apnea. Obesity will only worsen sleep disorders.



Numerous children with this syndrome develop an abnormal curvature of the spine or scoliosis.

Other symptoms and signs of Prader-Willi syndrome can include:

  • Light skin as compared with other members of the family
  • Nearsightedness or myopia
  • Pain tolerance that is high

It is important to get an accurate and prompt diagnosis. You should see your physician if your infant:

  • Has problems feeding
  • Does not respond to touch
  • Does not wake easily
  • Has rag doll like limbs

With older children see the physician if the child shows any of the below signs:

  • Weight gain that is rapid
  • Unusual food-seeking behaviors
  • Constant hunger

Prader-Willi Syndrome Diagnosis

In infants, the signs and symptoms that might cause your physician to order a blood test for Prader-Willi syndrome can include:

  • Muscle tone that is poor
  • Eyes that are almond shaped
  • Head narrowing at the temples

With children who are older, the physician might suspect this syndrome if the child shows:

  • Weight gain
  • Behavioral problems

A definitive diagnosis may always be made with a lab test. Genetic testing can detect anomalies in the child’s chromosomes that are specific for Prader-Willi syndrome.

Prader-Willi Syndrome Treatment

A health professional team will work with the parents in order to help in the management of the child’s disorder. The majority of children with the syndrome will require the below treatments as well as care:

Infant nutrition

Most infants with this syndrome have problems with feeding because of muscle tone that is decreased. The child’s physician might advise a formula that is high-calorie in order for the infant to gain weight as well as monitoring the child’s development.

Treatment with growth hormone

This stimulates growth as well as influences the body’s exchange of diet into energy or metabolism. Studies have shown that growth hormonal treatment with this syndrome aids in increasing growth, decreases body fat, improves muscle tone – but the effects long-term of growth hormonal treatment are not known. An endocrinologist can aid in determining if the child will receive help from growth hormonal treatment.

Treatment with sex hormone

The endocrinologist might suggest that the child also take “hormone replacement therapy” which involves testosterone therapy for males or progesterone as well as estrogen for females. This can help in decreasing the child’s risk of osteoporosis.


As the child ages, a nutritionist can help develop a reduced-calorie, healthy diet in order to keep the child’s weight controlled as well as confirming appropriate nutrition.

Development overall

The child can benefit from a wide range of management therapies, including speech therapy, physical therapy as well as occupational therapy. Developmental therapy also helps in learning behaviors that are appropriate for their age, interpersonal skills as well as social skills.

Mental health

A professional in mental health can help with any psychological problems that the child might have for instance mood disorder, obsessive-compulsive. Some children will benefit from medication to manage behavioral problems.

Adult care transition

Most individuals with this syndrome will need supervision and specialized care thru out their lives. Most adults may live in a residential care facility that helps them with eating healthy diets, work, living safely and enjoying leisure events.


When obesity is evaded and difficulties are managed well, life expectancy for individuals with this syndrome is normal or very near normal. Most individuals will lead lives that are healthy if diagnosis is early and a management or treatment plan is in place to avoid any complications especially with obesity that is uncontrolled.

Prader-Willi Syndrome Life Expectancy

As previous stated with early diagnosis and management of complications, life expectancy for individuals with Prader-Willi syndrome is normal or near normal. But there is some literature that suggests a life expectancy of not past the age of 40.

Prader-Willi Syndrome Pictures

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