Prader-Willi syndrome

This is part of Rare diseases.

Diagnosis: Prader-Willi syndrome

Synonyms: PWS


Publication date: 2012-11-30
Version: 5.0

The disease

Prader-Willi syndrome (PWS) is a genetic disorder associated with intellectual disability, insatiable appetite, short stature, low production of sex hormones, and low muscle tone (hypotonia).

The syndrome was described for the first time in 1956. It was named after Swiss paediatricians Andrea Prader and Heinrich Willi, who were the first to identify a number of children with a combination of low muscle tone at birth (neonatal hypotonia), excessive body weight, intellectual disability, short stature, and low production of sex hormones (hypogonadism).


Approximately 4-5 children per 100,000 are born with Prader-Willi syndrome, meaning that in Sweden an average of 6-8 children with the syndrome are born every year. As there are probably a number of undiagnosed adults with the syndrome, the exact occurrence is difficult to determine, but it is estimated that there are between 350 and 550 people with PWS in Sweden.


Prader-Willi syndrome may be caused by several different types of genetic defects on chromosome 15.

In 60-70 per cent of all cases the condition results from a missing segment (a deletion) in the paternally inherited chromosome 15 (15q11-q13). In most instances the deletion has occurred in the affected child and the risk of parents having more children with the syndrome is less than 1 per cent. Normally, certain genes in this specific area of chromosome 15 are active (unmethylated) in the chromosome copy inherited from the father, while they are inactive (methylated) on the copy inherited from the mother. This is called genomic imprinting. In Prader-Willi syndrome the active, unmethylated genes from the father are absent. If the same type of genetic defect is present in the maternally inherited chromosome, this results instead in Angelman syndrome (separate information material about this disorder can be found in the Rare Disease Database of the Swedish Board of Health and Welfare).

In 25-30 per cent of cases, the child has inherited two chromosomes 15 from the mother and none from the father.

In less than 5 per cent of cases, the genetic material from the father is absent owing to an unbalanced translocation (an exchange of chromosomal material between two chromosomes. In a small number of cases, less than 2 per cent, the disorder results from an imprinting mutation (an inactive gene) on the paternally inherited chromosome 15.

The gene or genes that cause the syndrome have not yet been identified, and therefore the pathogenesis of the disorder is unknown. However, as many individuals with Prader-Willi syndrome display symptoms of a disturbance in the lower parts of the midbrain (the hypothalamus), it is believed that a transmitter substance in the central nervous system is either absent or malfunctioning.


The syndrome can also be caused by a new mutation. This means that the genetic mutation occurs in an individual for the first time and is not inherited from either parent. In most cases parents with a child with Prader-Willi syndrome are not at increased risk of having another child with the disorder (exceptions are rare cases in which the syndrome is caused by an unbalanced translocation or an imprinting mutation). However, the new genetic mutation will be hereditary and an adult with this mutation risks passing on the mutated gene to his/her children. The recurrence risk then depends on the type of genetic defect that has caused the syndrome. It is very rare, however, that individuals with PWS have children of their own.


The symptoms of Prader-Willi syndrome vary markedly, and they change with age.

During pregnancy there is usually reduced foetal movement. Breech presentation is common. Birth length is usually normal, but weight may be slightly below average. Hypotonia is evident at birth, particularly affecting the musculature of the neck and trunk. Motor development is delayed, and children with the syndrome learn to sit, walk, and stand later than normal. Fine motor coordination is better developed than gross motor coordination. Speech development is also delayed.

Owing to a weak sucking reflex, feeding problems are common in early infancy. In many cases, the newborn cannot suck from the breast or bottle at all, and has to be tube fed. At the age of one or two years, the failure to thrive is replaced by an inordinate appetite and a compulsive relationship to food. Individuals with Prader-Willi syndrome may eat things normally considered inedible, and have difficulty vomiting. They also have low energy expenditure, approximately 50-60 per cent of what is considered normal. The combination of low caloric requirements and compulsive eating means that without a therapeutic diet, PWS leads to extreme obesity and an increased risk of developing type II diabetes and cardiovascular disease. The surplus body weight may also lead to leg and foot problems, including knee joint pain.

Infants with the syndrome may fail to thrive, both as a consequence of feeding problems in the newborn period and growth hormone deficiency.

Hypogonadism, abnormally reduced secretion of sex hormones, is another symptom. The condition leads to underdeveloped external sexual organs. However, dermatological signs of puberty, such as pubic and auxiliary hair growth and adult perspiration, may develop early. In newborn boys, the testes usually do not descend properly into the scrotum. Owing to reduced secretion of sexual and growth hormones, puberty may be late in onset and incomplete, and the growth spurt that normally occurs during puberty fails to occur. Adults with Prader-Willi syndrome have short final stature. The average height in males is 155 cm and in females 148 cm.

Scoliosis (abnormal curvature of the spine) is common and is probably caused by hypotonia and uneven balance of the muscles of the back. The curved spine reduces the mobility of the rib cage and may affect breathing. Muscular weakness and imbalance can also cause eye problems such as strabismus (squinting). Individuals with the syndrome may also be far-sighted (hyperopia).

Various forms of epilepsy may be associated with PWS.

A characteristic appearance is associated with the syndrome. Individuals with the disorder often have blue eyes and are fairer than the rest of the family. Hands and feet are usually smaller than normal. The forehead is narrow, the eyes are almond-shaped, and the upper lip is thin.

Many people with PWS have small teeth and teething is often delayed. There may also be extra teeth and tooth enamel defects. Production of saliva is reduced and the saliva is thick, white, and sticky. In combination with the eating disorder this leads to an increased risk of dental caries.

Oral muscle weakness and anatomical anomalies of the mouth and lips often result in speech impediments, including sound formation difficulties, deviant voice levels, and hypernasal speech. Language development is usually delayed. Although children with the syndrome often gain a good vocabulary, language comprehension is highly variable depending on the degree of intellectual disability.

Intellectual capacity varies from the lower normal range to severe intellectual disability. Most individuals with Prader-Willi syndrome have mild to moderate intellectual deficiencies. The development of executive functions, such as impulse control, working memory, and planning skills is partly dependent on intellectual development. The degree of intellectual disability is probably linked to the type of genetic defect of chromosome 15 that has caused the syndrome.

The syndrome is associated with emotional instability that tends to increase during the teenage years. Individuals with Prader-Willi syndrome may have mood swings and other behaviour problems, affecting social life and leading to a risk of social isolation. They often find it difficult to foresee the consequences of their actions. Many have autistic traits. Some develop obsessive-compulsive behaviour, compulsive thoughts and other anxiety disorders. There is an increased risk of developing self-destructive behaviours such as frequent biting and picking at their own bodies, particularly around the fingernails and toenails, and around little sores.

An excessive need of sleep is associated with the syndrome, especially in infants, who sometimes need to be woken to be fed. Individuals with PWS are easily fatigued and often fall asleep even during daytime, particularly at times of inactivity. Fatigue is sometimes exacerbated by sleep apnoea, a disorder characterised by short pauses in breathing during sleep.

Many have disturbances in body temperature regulation, particularly in early infancy. This symptom may persist into adulthood, being expressed, for instance, in the absence of fever in illness. Insensitivity to cold and heat is also common and these individuals may dress inappropriately for the season or climate.

Individuals with the syndrome have high pain thresholds and it is therefore important to be particularly observant in order not to neglect any serious condition or injury. Many bruise easily, and their skin tends to redden after a hot bath.

Unexpected reactions to certain pharmaceutical drugs and anaesthesia may occur.


The diagnosis may be suspected on the basis of clinical presentation and characteristic signs. It is then confirmed in a DNA analysis

At the time of diagnosis the family should be offered genetic counselling.


The only way to prevent overweight is a consistent appropriate caloric intake, stable mealtime habits, and regular physical activity. The diet should be planned by a professional dietician, and the earlier this is done the easier it will be to make the child accept the food in question. Individuals with Prader-Willi syndrome cannot be expected to take responsibility for their eating habits and should not have free access to food. They also need to be guided and encouraged to take up exercise and other activities.

Growth hormone treatment has positive effects on height and on muscle strength. New research indicates that children who receive early growth hormone treatment before the age of 18 months have better motor and cognitive development. If reduced caloric intake is maintained the treatment also lessens the risk of obesity. Growth hormones may also help adults with the syndrome improve their body composition, by reducing the proportion of body fat and increasing muscle mass.

Children with PWS who have not entered puberty by the age of 12-14 years can be given sexual hormone treatment. Sexual hormones may also have a positive effect on the children’s body composition and are important for preventing osteoporosis later in life.

A lateral curvature of the spine affects stature and sometimes respiratory function. Therefore it is important to schedule regular check-ups. If the condition worsens it should be regularly assessed by an orthopaedic specialist who evaluates the need for a corset brace or surgery. A physiotherapist should be seen regularly for advice on suitable exercise and physical activities.

An ophthalmologist should be contacted to assess the child’s vision. Strabismus often improves if the child is given glasses, but in some cases surgery is necessary. An eye patch can be worn on the good eye in order to train the weaker eye.

On suspicion of epilepsy a paediatric neurologist should examine the child, and anti-epileptic drugs can be prescribed.

Owing to the high risk of caries, children and adults with Prader-Willi syndrome must be very thorough regarding their oral hygiene. Orthodontic treatment may also be required.


At present, there are no universally accepted treatment strategies for emotional and behavioural problems in children and adults with Prader-Willi syndrome. The choice of treatments and support measures must be based on an early, detailed neuropsychological examination of the child’s cognitive, emotional, and motor development capacities. When the child reaches the teens, a new assessment should be performed.

Self-destructive and stereotypic behaviour requires individually adapted treatment based on knowledge of the frequency and context of the behaviour. In some children, self-destructive behaviour presents as early as during the preschool years.

In some cases, symptoms include pronounced anxiety and obsessive-compulsive disorders. Psychotic episodes (in which reality is distorted) have also been described. Treatment for these conditions must be based on a detailed psychiatric diagnosis. Psychopharmacological drugs may be helpful, but their use must be closely monitored.

All staff working with children and adults with Prader-Willi syndrome should be informed about the characteristic behaviour patterns. They often need access to supervised instruction in order to provide the best possible care.


The child and family require early contact with a habilitation team including professionals with special expertise in how disability affects everyday life, health and development. Support and treatment take place within the medical, educational, psychological, social and technical fields. Help includes assessment, treatment, the provision of aids, information on the specific disability, and counselling. It also includes information on all available support offered in the community, as well as advice on adjustments to the home environment and other places where the child spends time. The child as well as parents and siblings should be offered support. The family may also need help coordinating interventions.

The measures focus on existing needs, may vary over time and occur in collaboration with individuals close to the child.

The child’s intellectual development determines which form of schooling is most appropriate. Most children will require some kind of special educational assistance, and a special education class is often the best choice.

Individuals with Prader-Willi syndrome are most comfortable with regular routines. Habilitation interventions should therefore focus on structuring daily life and activities. The need for routines and for everything to be done in a certain way or in a particular order makes it very important to plan any changes very carefully. Disruption of established routines, changes of plans, or new situations often lead to acting out and conflicts. The individual may need help in preparing concrete, practical ways of dealing with the new situation.

During the teenage years in particular, difficulties in comprehending and managing social situations and experiences of being different can give rise to a negative self-image and isolation.

Older children, teenagers and adults with Prader-Willi syndrome may benefit greatly from talking therapies, and often find contact with others in a similar situation useful.

Adults with the syndrome also need help and assistance. An assisted living facility may provide support adapted to the individual’s needs. Problems associated with the eating disorder and any additional psychological difficulties should be considered in the choice of housing.

Practical advice

Avoid using food as a reward, and have the whole family eat the same type of food. If necessary, keep the kitchen locked, and do not allow the child to be alone in areas where food is stored.

Try to arrange periodic relief, for example through support families or respite care, to give the family some rest and siblings some extra parental attention. Whenever possible, arrange for physical activity in the family or in groups.

Make sure that as many people as possible in the child’s environment have the necessary information about the syndrome.

National and regional resources in Sweden

At the Astrid Lindgren Children’s Hospital, Karolinska University Hospital, there are professionals with a great deal of experience in treating Prader-Willi syndrome.

Paediatric endocrinology units are found at regional hospital paediatric clinics.

Since 1992, Stockholm has a group residential facility for individuals with Prader-Willi syndrome. The facility offers instructions and lectures for groups of staff and can be contacted for information or an educational visit: Jämlikheten group home, Ljusnevägen 1B, SE-128 48 Bagarmossen, Sweden. Tel: +46 8 508 153 91. Contact persons: Lisa Boman, email: lisa.boman@attendo.se, and Lena Andersson, email: lena.andersson2@attendo.se.

Resource personnel

Associate Professor, paediatrician Ricard Nergårdh, email: ricard.nergardh@ki.se, and Professor emeritus Martin Ritzén, email: martin.ritzen@ki.se, DEMO unit, The Astrid Lindgren Children’s Hospital, Karolinska University Hospital, Solna, SE-171 76 Stockholm, Sweden. Tel: +46 8 517 700 00.

Chief physician Ann Christin Lindgren, Sach’s Children’s Hospital, Rosenlund Hospital, Tideliusgatan 12, 1st floor, SE-118 90 Stockholm, Sweden. Email: ann.christin.lindgren@ki.se.

Margareta Wigren, PhD, psychologist, Ulricehamn Healthcare Centre, Nygatan 7, SE-523 30, Ulricehamn, Sweden. Email: margareta.wigren@vgregion.se.

Courses, exchanges of experience, recreation

Ågrenska is a national competence centre for rare diseases and its families’ programme arranges stays for children and young people with rare diseases and their families. Ågrenska is open to families from the whole of Sweden and focuses particularly on the needs of children and young people with rare diseases. Every year a number of adults with rare diseases also visits Ågrenska. Information is available from Ågrenska, Box 2058, SE-436 02 Hovås, Sweden. Tel: +46 31 750 91 00, fax: +46 31 91 19 79, email: agrenska@agrenska.se, www.agrenska.se.

Lectures and family group meetings are arranged by the Swedish Prader-Willi Syndrome Association (see under “Organizations for the disabled/patient associations”).

Organizations for the disabled/patient associations etc.

The Swedish Prader-Willi Association, www.prader-willi.se. Contact persons are Arja Ylhänen, tel: +46 8 642 32 20, email: arja.ylhanen@telia.com, Cecilia Bjärgö, tel: +46 70 698 08 21, email: ia@bjargo.se, and Lisa Boman, tel: +46 8 641 82 85, email: lisa.boman@telia.com.

There is also an international organization: The International Prader-Willi Syndrome Organisation (IPWSO), www.ipwso.org.

The organization can be contacted through the Swedish PWS organization and their international representatives: Jean Phillips-Martinsson (parents’ delegate), email: jeanpws@compuserve.com and Martin Ritzén (scientific advisor and professional delegate), email: martin.ritzen@kbh.ki.se.

Rare Diseases Sweden, Box 1386, SE-172 27 Sundbyberg, Sweden. Tel: +46 8 764 49 99, email: info@sallsyntadiagnoser.se, www.sallsyntadiagnoser.se. Rare Diseases Sweden is a national association promoting the interests of people with rare diseases.

RBU, The Swedish National Association for Disabled Children and Young People, St Eriksgatan 44, Box 8026, SE-104 20 Stockholm, Sweden. Tel: +46 8 677 73 00, fax: +46 8 677 73 09, email: info@riks.rbu.se, www.rbu.se.

FUB, The Swedish National Association for Children, Young People and Adults with Intellectual Disabilities, Gävlegatan 18 C, Box 6436, SE-113 82 Stockholm, Sweden. Tel: +46 8 508 866 00, fax: +46 8 508 866 66, email: fub@fub.se, www.fub.se.

Courses, exchanges of experience for personnel

IPWSO organizes international conferences on Prader-Willi syndrome every three years in different countries. The Swedish PWS association arranges one-day seminars for professionals working with Prader-Willi syndrome and for affected individuals and their families.

During the Ågrenska Family Program weeks, training days are organized for personnel working with the children and young people who are participating. Information is available from Ågrenska, Box 2058, SE-436 02 Hovås, Sweden. Tel: +46 31 750 91 00, fax: +46 31 91 19 79, email: agrenska@agrenska.se, www.agrenska.se.

Research and development

International research in the field of molecular genetics is currently ongoing to map the gene or genes that cause Prader-Willi syndrome.

There is an ongoing Swedish study about breathing and circulation during infection in individuals with PWS. Contact persons: Charlotte Höybye, MD (Adults), and Ann Christin Lindgren, MD (Children).

Margareta Wigren, PhD, Psychologist, is researching the effects of early treatment and diagnosis of psychological problems in children and adolescents with Prader-Willi syndrome. The research is being conducted at the Södra Älvsborg Research and Development Unit for Primary and Dental Care.

Information material

An information leaflet on Prader-Willi syndrome that summarises the information in this database text is available free of charge from the customer service department of the Swedish National Board of Health and Welfare (in Swedish only, article number 2012-5-21.) Address: SE-120 88 Stockholm, Sweden. Tel: +46 75 247 38 80, fax: +46 35 19 75 29, email: publikationsservice@socialstyrelsen.se. Postage will be charged for bulk orders.

“Prader-Willi syndrom: vad är det?” (Information folder in Swedish)The Astrid Lindgren Children’s Hospital, Stockholm. The folder can be ordered from Nurse Marianne Lindqvist, The Paediatric Endocrinal Clinic at the Astrid Lindgren Children’s Hospital, Karolinska University Hospital, SE-171 76 Stockholm, Sweden. Tel: +46 8 517 775 79.

The Ågrenska National Competence Centre for Rare Diseases has published a newsletter on Prader- Willy syndrome, nr 415 (2012). Newsletters are edited summaries of lectures delivered at family and adult visits to Ågrenska. They may be ordered from Ågrenska, Box 2058, SE-436 02 Hovås, Sweden. Tel: +46 31 750 91 00, fax: +46 31 91 19 79, email: agrenska@agrenska.se . They are also available at www.agrenska.se.

“Barn och ungdomar med Prader-Willi syndromet” – a folder (in Swedish, 2010) can be ordered or downloaded from RBU, (see under “Organizations for the disabled/patient associations”).

The Swedish PWS Association publishes a PWS paper in May and November. The paper can be downloaded at www.prader-willi.se.

Films that describe living in a group residential facility and PWS films in English are available on loan from the group residential facility “Jämlikheten” (see under “National and regional resources”). There is also a brochure that describes how the group home works.

Information material on Prader-Willi syndrome is available from Frambu Senter for sjeldne funksjonshemninger, Sandbakkveien 18, NO-1404 Siggerud, Norway. Tel: +47 64 85 60 00, fax: +47 64 85 60 99, email: info@frambu.no, www.frambu.no.


Management of Prader-Willi syndrome. Merlin G Butler, Phillip DK Lee, Barbara Y Whitman. Springer Verlaag, third edition, New York, 2006. The book can be ordered from The International Prader-Willi Syndrome Organisation: www.pwsausa.org.

Healthy Eating with Prader-Willi Syndrome. Jackie Waters, first edition, London, 2007. The book can be ordered from the British PWS Association: http://pwsa.co.uk.


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Database references

OMIM (Online Mendelian Inheritance in Man)
Search: prader-willi syndrome

GeneReviews (University of Washington)
www.genetests.org (select “GeneReviews”, then “Titles”)
search: prader-willi syndrome

Document information

The Swedish Information Centre for Rare Diseases produced and edited this information material.

The medical expert who wrote the draft of this information material is Ann Christin Lindgren, MD, Karolinska University Hospital, Huddinge/Stockholm, Sweden.

Psychologist Margareta Wigren, PhD, The Ulricehamn Healthcare Centre, also contributed to the material.

The relevant organisations for the disabled/patient associations have been given the opportunity to comment on the content of the text.

An expert group on rare diseases, affiliated with the University of Gothenburg, approved the material prior to publication.

Publication date: 2012-11-30
Version: 5.0
Publication date of the Swedish version: 2012-09-10

For enquiries contact The Swedish Information Centre for Rare Diseases, The Sahlgrenska Academy at the University of Gothenburg, Box 422, SE-405 30 Gothenburg, Sweden. Tel: +46 31 786 55 90, email: ovanligadiagnoser@gu.se.


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