Prader Willi Syndrome Picture

Prader Willi Syndrome: Causes, Picture, Symptoms, Treatment

Prader Willi Syndrome causes physical, mental, and behavioral problems in children. It is a rare genetic disorder characterized by a constant sense of hunger. In most cases, a child suffering from the syndrome can its effects by the age of two. Children affected by the syndrome always feel hungry as they never feel full. The condition referred to as hyperphagia results in obesity and problems controlling their body weight. Obesity can trigger several problems in children, which can affect their quality of life. If your loved ones suffer from the syndrome, then you need to manage the symptoms for a better quality of life. A team of specialist doctors can work with you to handle the complex disorder. By getting the necessary help, you can reduce the risk of developing other severe complications. So, the affected person can have a better life with fewer discomforts.

Symptoms Of Prader Willi Syndrome

Prader Willi Syndrome

The signs and symptoms associated with the problem may vary from person to person. The symptoms may change over time. So, you can see different signs from childhood to adulthood. But, the earlier detection can help better management of the problem. Therefore, the different signs you observe in people during different stages of life due to Prader Willi Syndrome are:


The genetic disorder present right from birth can have different signs. You need to closely monitor a child to see if the baby has the syndrome. So, you need to look out for symptoms like:

Poor Muscle Tone

It is the primary sign affected the child suffering from the syndrome. It causes the child to have poor muscle tone also known as hypotonia. You can see the babies rest with their knees as well as elbows loosely extended. In normal cases, it is fixed. So, the child looks like a rag doll when they are held. The floppiness is due to the poor muscle tone.

Distinct Facial Features

The children with the syndrome have almond-shaped eyes. They also have a narrow head at the temples. The distinctive facial features like a thin upper lip and turned down mouth also indicate the presence of the syndrome.

Poor Sucking Reflex

The decreased muscle tone can cause poor sucking reflex in the infants. So, it can lead to feeding difficulties. The lack of nutrition due to improper feeding can result in the failure to thrive.

Poor Responsiveness

The children affected by the syndrome can have poor responsiveness. In most cases, the child seems very tired. They also respond poorly to any stimulation. It results in having a weak cry and hard time waking up.

Underdeveloped Genitals

Male children affected by Prader Willis Syndrome have a small penis and scrotum. The testicles fail to descend from the abdomen into the scrotum or have a small size. In female children, the small size of labia and clitoris points towards the genetic problem.

Early Childhood To Adults

Some of the features associated with the syndrome appear during early childhood. But, it remains throughout life. So, you need careful management for avoiding severe complications. The features that you can see during the time period includes:

Food Craving And Rapid Weight Gain

It is the classic symptom of Prader Willi Syndrome. Children affected by it can crave food constantly. It results in excess weight gain. In most children, the hunger pangs start around two years of age. It leads to consuming a large amount of food. The problem also triggers unusual behavior in children like eating garbage, frozen food or even hoarding food.

Underdeveloped Sex Organs

The syndrome can trigger a condition known as hypogonadism. It causes the sex organs (for example, ovaries in women and testes in men) to produce little or no sex hormones. So, it results in underdeveloped sex organs in men and women. It also causes incomplete or delayed puberty. The problem trigger infertility. Without proper treatment, the problem leads to complications. Men may not develop facial hair or have deepened voice while women may not start their menstruation before the age of 30. Therefore, prompt treatment can only prevent complications.

Poor Physical Development And Growth

The insufficient production of the growth hormone can result in poor physical development. It causes the following:

  • Short adult height
  • High body fat
  • Low muscle mass
  • Endocrine problems (underproduction of thyroid hormone also known as hypothyroidism)
  • Central adrenal insufficiency (causing the body to respond inappropriately during infections or stress)

Cognitive Impairment

The syndrome causes mild to moderate intellectual disability. It triggers problems with:

  • Reasoning
  • Thinking
  • Problem-solving

A child suffering from a mild form of the problem without any glaring intellectual disability can also suffer from learning disabilities.

Delayed Motor Development

Children with the syndrome take time to reach the significant milestones in physical movement. So, they sit or walk later than normal children.

Speech Problem

Children with Prader Willi syndrome often encounter speech delays. As they progress into adulthood, they experience poor articulation of words.

Behavioral Problems

Children and adults affected by the syndrome have behavioral problems. Therefore, they can exhibit the following:

They do not like change in their routine or like denying anything to them. They can develop other mental health issues.

Sleep Disorders

Children affected by the syndrome can suffer from disorders. So, it can result in several issues like:

  • Disruption of the normal sleep cycle
  • Sleep Apnea (a condition causing breathing to pause during sleep)

The condition can make the child exhausted and lead to excessive daytime sleeping. So, it worsens the already existing behavior problems.

Other Signs

Apart from the above-mentioned issues, you can also see other issues. Physical deformities can indicate a genetic disorder. So, you can observe symptoms like:

  • Scoliosis (curvature of the spine)
  • Small hands and feet
  • Vision problem (like nearsightedness)
  • Reduced saliva flow
  • Hip problems
  • Trouble regulating body temperature
  • Hypopigmentation (Lack of pigment in skin, eyes, and hair, making it appear pale)
  • High pain tolerance

So, people suffering from the syndrome need to visit their doctor regularly. Scheduling the doctor’s visit at frequent intervals can help identify the signs of complications and detect problems early. Therefore, you can manage the issue better.

Causes Of Prader Willi Syndrome

As discussed earlier, the syndrome occurs due to an error in one or more genes. It is the genetic disorder that occurs when a particular region of chromosome 15 encounters a problem. But, the exact mechanism responsible for the genetic disorder remains unidentified. Generally, the genes in the human body come in pairs. Except for the genes associated with sex characteristics, you inherit the genes in pairs. It comes from your parents. So, you get one copy from your father (paternal gene) and the other from your mother (maternal gene). In most gene types, when one copy is active, the other also expresses. It is also normal for the gene to act alone. Prader Willi Syndrome occurs when the paternal genes fail to express. It occurs due to any one of the reasons:

  • The missing paternal genes on chromosome 15
  • A child inherits two copies of chromosome 15 from the maternal side, but no chromosome 15 from the paternal side
  • Error or defect in chromosome 15 in paternal genes

When a person gets affected by the syndrome, the chromosome 15 defect occurs. The effect can disrupt the normal function of the hypothalamus. Hypothalamus is the part of the brain that controls the release of several hormones. With the disruption in the proper functioning of the hypothalamus, it results in issues like:

  • Problems with sexual development
  • Hunger issues
  • Change in body temperature
  • Mood swings
  • Sleep disorder

The problem occurs randomly. So, the issue is not inherited from the family members. Therefore, you can undergo genetic counseling to determine the risk of genetic defect. It is essential for people who already have a child with the syndrome.

Complications Due To Prader Willi Syndrome

Children suffering from the syndrome need proper medical attention. It helps manage the various complications arising due to the syndrome. If you fail to get medical attention, then it can result in severe issues. The common problems associated with the syndrome are:

Obesity-Related Complications

The constant hunger and lack of physical activity can result in high body mass. So, the excess body weight can lead to complications like:

Inadequate Hormone Production

The syndrome causes low sex hormone production. It also results in low levels of growth hormones. Therefore, inadequate hormone production can lead to issues like:

  • Infertility
  • Osteoporosis

Binge Eating

The constant hunger pangs can lead to binge eating. So, the syndrome affected child consumes large amounts of food quickly. It can cause the following problems:

  • Enlarged stomach
  • Choking
  • Lack of pain/nausea
  • Stomach rupture

Reduced Quality Of Life

The behavioral issues faced by the child can affect the family functioning negatively. So, it can interfere with social participation and successful education. It reduces the quality of life of children, teenagers, and adults.

Preventing Prader Willi Syndrome

If you already have a child with the syndrome, then you need to consult your doctor before trying for another baby. The doctor can aid you in seeking genetic counseling, which will shed light on the risk you face while having another child with the same syndrome. So, you can take adequate measures to prevent delivering a child with Prader Willi Syndrome again.

Diagnosis Of Prader Willi Syndrome

You need to see a proficient medical professional to make a precise diagnosis. The doctor checks for the signs and symptoms that indicate the syndrome in the affected child. But, a definitive diagnosis is possible through the following:

Genetic Testing

The genetic test involves taking a blood sample from the affected person. The test can reveal the abnormalities in the chromosomes, which indicates the syndrome.

Treatment Options For Prader Willi Syndrome

The syndrome has no complete cure. The early diagnosis and effective treatment can manage the symptoms. So, your child can have a better quality of life. A team of healthcare professionals can work together to manage the condition. Therefore, you need to seek help from a panel of doctor consisting of specialists like:

  • Endocrinologists (specialists who treat hormonal disorders)
  • Geneticist
  • Mental health professional
  • Other specialists

Every child has varying needs for care. Therefore, the treatment aims to overcome the specific symptoms experienced by the child. But, the main treatment options include the following:

Nutrition For Development

A child suffering from the Prader Willi syndrome have feeding difficulties. Therefore, it reduces the muscle tone and causes a lack of nutrition. Your child’s doctor will recommend a high-calorie formula or special methods of feeding to provide nutrition for the child. It will help the baby gain weight and will improve the child’s growth.

Human Growth Hormone (HGH) Treatment

HGH hormone treatment can increase the growth of the child. It also decreases body fat and improves muscle tone. An endocrinologist can determine if your child can benefit from the HGH treatment. You can also discuss any risks associated with the treatment. In most cases, the doctors recommend a sleep study before starting the growth hormone treatment.

Hormone Replacement Therapy

Hormone Replacement Therapy

The endocrinologist may suggest your child undergo hormone replacement therapy. The sex hormone therapy offers testosterone for males while females get progesterone. It replenishes the low levels of sex hormones. It is mostly started when the child reaches puberty. Therefore, the child can avoid issues like osteoporosis (thinning of bones). But, surgical intervention is necessary to correct undescended testicles.

Weight Management

You need the assistance of a dietitian to develop a meal plan that will help reduce calorie but offer good nutrition. The healthy, low-calorie diet can manage the child’s weight effectively. The dietician may also suggest vitamins and mineral supplements for balanced nutrition. You also need to incorporate physical activity and exercise into your child’s schedule to manage weight and enhance physical functioning.

Treatment For Sleep Disturbances

Your child needs treatment for sleep disorders like sleep apnea. It will improve daytime sleepiness. So, it helps manage the behavioral issues faced by the syndrome affected children to an extent.

Behavior Management

Behavior problem can affect the children suffering from the syndrome. You need to set strict limits on behavior, have a schedule, and restrict the access to food. Strict supervision during the intake of food can avoid obesity. In some cases, children need medication to handle behavior problems.

Mental Health Care

You need to seek assistance from a mental health care professional like a psychiatrist or psychologist to address certain issues. Children with the syndrome can suffer from psychological problems like mood disorders, skin picking, or obsessive-compulsive disorder. Therefore, professional help can address such issues better.

Other Therapies

Other therapies can provide benefit to the child, depending on the issue they suffer. So, the following therapies can offer relief:

  • Physical therapy (to improve strength and movement skills)
  • Speech therapy (to improve communication/verbal skills)
  • Occupational therapy (learn everyday skills)
  • Educational planning (Support to maximize learning skills)

Transition To Adult Care

People affected by Prader Willi Syndrome need care and supervision for their whole life. So, you need to think about taking care of the children who approach their adulthood. So, you need to opt for round the clock care or live-in residential care facilities. It will help them enjoy leisure activities and eat healthy with strict supervision. You can talk to your child’s doctor for a suggestion that helps you make the right decision.

Lifestyle And Home Remedies For Prader Willi Syndrome

Apart from the care offered by the specialist team of doctors, you need to take care of our loved ones suffering from the syndrome at home. You can implement the following pointers to ensure they get the maximum care and avoid any discomfort.

Gather Information About Prader-Willi Syndrome

You need to gather as much information as possible to combat the syndrome effectively. The right knowledge can help you control the hormone levels and weight of the affected person. It will prevent complications and improve development. With the right knowledge, you can develop a proper plan to care and manage the symptoms associated with the syndrome.

Follow A Strict Diet Plan

Children or adults suffering from the syndrome need to follow a low-calorie diet that will prevent obesity. You need to structure mealtime along with the right type of food that will help the affected person understand about the need to eat right. You have to avoid high-calorie snacks and use small dishes to serve food. With a strict diet plan, affected people can keep their weight in check and prevent complications. To avoid temptation, you need to lock the pantries, cupboard, and refrigerators

Include Daily Activities

You need to encourage your loved one suffering from the disease to have regular activity. The increasing physical activity along with exercise can help prevent obesity. So, it manages the eight and improves their physical functioning.

Set Expectations

You need to create a tight schedule and set limits to manage the behavior of the affected children. So, talk to the team of specialist doctors to find different methods to address any problem.

Regular Medical Care

You need to talk to your doctor to schedule regular health appointments for the affected children. The frequent checkups can detect any problem or issues arising due to the syndrome quickly. So, you can find ways to manage it effectively.

Coping And Support For Caretakers Of Prader Willi Syndrome

Caring for someone suffering from Prader Willi syndrome can overwhelm you at the time. You need a lot of patience and mental strength to manage people affected by it. The caretakers need to develop a plan to manage the eating problems, combat behavioral issues and deal with the medical problem. It can have an impact on the whole family. So, you need support to cope with the pressure taking care of people affected by the syndrome. You can seek some of the options for coping and support like:

Seek Help From Professionals

You need to talk to a mental health professional to deal with the issue. The stress and pressure can make you feel overwhelmed. Therefore, talk about the problems to a therapist or health counselor.

Join A Support Group

You can share your experiences with people who encounter a similar experience. It will help you get insight into the problem better. You can ask the health care provider about the support groups in your area. You can also access the assistance from the organization dedicated to providing resources, educational materials, and support for the syndrome.

Talk To Your Close Circle

You can seek support from your close-knit group of friends or family members who can reduce your stress. It also aids in getting support from the friends/family to care for the child affected by Prader Willi syndrome. You need a break from taking care of the child with the syndrome.


Prader Willi Syndrome has no cure, but prompt medical care can help your child manage the symptoms better. Therefore, detecting the issue early and taking adequate steps for management will improve the quality of life of the child.

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