Williams syndrome

This is part of Rare diseases.

Diagnosis: Williams syndrome

Synonyms: Williams-Beuren syndrome


Publication date: 2013-12-27
Version: 2.1

The disease

Williams syndrome is associated with a characteristic appearance and behaviour, a number of physical symptoms, and intellectual disability with a distinctive, uneven cognitive profile.

The syndrome is named after the New Zealander J. C. P. Williams, one of the physicians who described the condition in 1961. The following year the description was supplemented by the German cardiologist Alois Beuren.


Williams syndrome occurs in 5-10 individuals per 100,000 population. An approximate estimate of the number of Swedish infants born with the syndrome is 5-10 per year. Williams syndrome is equally common in boys and girls.


The cause of Williams syndrome is a deletion on the long arm of one of the two chromosomes in chromosome pair 7 (7q11.23). As genetic material is missing from one chromosome, individuals with the syndrome only have one copy of certain genes, rather than the usual two.

The deletion usually comprises 25 genes. Although a great deal is known about the function of these genes, the association between individual genes and symptoms is still unclear. As individual genes interact, it is possible that genes outside the deleted region are affected, which complicates the mapping of associations between individual genes and symptoms. We know, for example, that functions of genes in the proximity of the deleted region are often affected, although these genes remain structurally intact.

The first identified gene in the deleted region was the ELN gene. This gene regulates the production of elastin, a protein providing elasticity to connective tissues, for example in the heart and major blood vessels. Deletion of the ELN gene may contribute to premature ageing of the skin and probably also to the increased risk of high blood pressure (hypertension) associated with the syndrome. Several other genes, for example LIMK1, RFC 2 and STXA, alone or in combination, have been linked with the various manifestations of the syndrome. In rare cases, the deletion comprises a larger segment of chromosome 7, in which case symptoms become more pronounced. Recent research shows that a duplication of the deleted segment may cause a complicated pattern of symptoms similar to those associated with Williams syndrome. The occurrence of deletions and duplications in this particular region is a consequence of the fact that it is delimited by almost identical genetic sequences (segmental duplications), which increases the risk of abnormal chromosome pairing in the formation of gametes (egg and sperm cells). Deletions or duplications may then occur as a consequence of chromosomal crossover.

Congenital supravalvular aortic stenosis (SVAS), the same heart anomaly associated with Williams syndrome, can be caused by a deletion that only comprises the ELN gene. People with this form of SVAS do not have any of the other symptoms associated with the syndrome.


In most individuals the deletion that underlies Williams syndrome is 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. Consequently, parents with a child with a new mutation generally do not have an increased risk of having another child with the disorder. However, the new genetic mutation will be hereditary and an adult with this mutation risks passing on the mutated gene to his/her children. In such cases the inheritance pattern is autosomal dominant, which means that one of the parents has the disease, and so has one normal gene and one mutated gene. Sons and daughters of this parent have a 50 per cent risk of inheriting the disease. Only rarely, however, do people with Williams syndrome become parents.

Figure: Autosomal dominant inheritance


Williams syndrome is characterized by a combination of distinct physical features that may be more or less prominent, congenital anomalies mainly affecting the cardiovascular system, and intellectual disability with a characteristic uneven developmental profile. Individuals with the syndrome often bear a striking resemblance, both in terms of appearance and personality.

The appearance of individuals with Williams syndrome is easier to recognize than to describe in words. The features tend to become more distinctive with age, but are sometimes noticeable even in newborns. The eyes may be widely set (hypertelorism), and blue-eyed individuals often have a visible “starburst” pattern around the iris. The nose is broad-based, and the nostrils may be slightly upturned. The mouth is large, and the lips may be full and slightly pouting. The midline groove that runs from the top of the upper lip to the nose (the philtrum) is long. The teeth are often small with enamel defects and are often widely spaced, although in some cases they may be crowded. The chin is frequently small. In boys the Adam’s apple tends to become very prominent. People with Williams syndrome are often slender and graceful with sloping shoulders. It can be difficult to detect these features in the young infant. However, children and adolescents with Williams syndrome are often very good at recognizing the syndrome in their peers.

More than half of all people with Williams syndrome have cardiovascular abnormalities. The most common defect is a narrowing of the aorta where it leaves the left ventricle, just above the aortic valve (supravalvular aortic stenosis, SVAS). If the blockage is minor it causes no problems. If it is severe, however, the left ventricle must work harder to generate increased pressure, which may be harmful over time. High pressure increases the risk of coronary artery damage. Another common congenital heart anomaly is aortic valve defect (bicuspid aortic valve). Coarctation of the aorta may also occur, in which case there is a narrowing of the aorta, close to the heart. In many cases there is a combination of these anomalies. Boys with the syndrome are more likely to have cardiovascular problems than girls.

Several other major blood vessels may be obstructed, for example arteries that supply blood to the lungs or kidneys. There are often minor obstructions of the pulmonary artery branches. As a result of decreased elasticity, all arteries tend to be narrow, with thickened walls. This condition may lead to high blood pressure, sometimes even in childhood.

The chest is frequently malformed and inguinal or umbilical hernias are common. Kidney and ureter abnormalities also occur frequently, but rarely cause severe problems. Intestinal diverticula, sometimes associated with constipation, are common and may require assessment and treatment.

The combination of low muscle tone in the mouth and throat and a sensitive oral cavity contributes to feeding problems in infants with Williams syndrome. Chewing and swallowing difficulties may persist.

Some children may have high calcium levels in the blood in the first few years of life. The condition usually normalizes later in life, but occasionally the calcium metabolism is affected in adults and needs to be assessed.

Individuals with Williams syndrome have an increased risk of developing diabetes. Impaired glucose tolerance, an early symptom of diabetes, often presents in childhood. One study demonstrated that as many as 75 per cent had a form of pre-diabetes or needed diabetes treatment. It is still unclear whether the condition is caused by impaired insulin production or cell insulin resistance.

Other studies show that 10-15 per cent of all individuals with the syndrome have thyroid hormone deficiency (manifest hypothyroidism), sometimes even in childhood. The condition is believed to result from an unusually small thyroid gland (hypoplasia). If thyroxine (thyroid hormone) levels are only slightly decreased, the body is able to compensate for the deficiency (subclinical hypothyroidism). More pronounced deficiencies are symptomatic and should be evaluated for appropriate treatment.

Both fine and gross motor development are delayed in children with the syndrome. Muscle tone is also very low (hypotonia). However, muscle tone tends to improve with age and may eventually even become too high (hypertonia). Adolescents and adults with Williams syndrome often move clumsily, and may have difficulties walking on uneven ground. Impaired joint mobility is a problem that may worsen, thereby compromising mobility. The ability to twist the lower arm is particularly affected, which may be noted even in children. Most people with the syndrome tend to stand with their knees and hip joints slightly bent and swayback posture.

Children with Williams syndrome tend to be small for their age and reach their final adult height early. One study found that the average height in females was 152 cm, and in males 165 cm. Early onset of puberty is relatively common, particularly in girls.

Hypersensitivity to sound (hyperacusis) is common and may be very stressful. Sometimes this symptom is associated with minor high frequency hearing loss. Squinting and refractory vision problems are also common.

Speech and language acquisition is slower than in normal children. Later it becomes apparent that the child has mild to moderate cognitive impairment. A few children have severe cognitive impairment, but there is considerable variation and some are within the normal intellectual range. Many have a deep, hoarse voice.

Most individuals with the syndrome have a very uneven cognitive profile. They do much better on verbal tests than on non-verbal (performance) tests. However, their ability to understand speech and language is less developed than their often relatively advanced language usage would suggest. They tend to use words and expressions that they do not fully understand. Non-verbal tests almost always indicate difficulties in handling visual information, revealing a tendency to observe details and particularities while disregarding the whole picture. Visuospatial perception may be poor and can cause problems in finding one’s way in new places. Many children have difficulties in starting activities, and work slowly on attention-demanding tasks.

Visuomotor integration, the ability to coordinate vision and motor skills, is often impaired, which causes problems in drawing, writing and doing maths. Insecurity and clumsiness make climbing stairs and walking in uneven terrain difficult to manage.

The syndrome is also associated with characteristic behavioural traits. Children with the syndrome tend to be extremely talkative, using many words and an advanced vocabulary for their cognitive level. They are often good at speaking or imitating foreign languages. Their level of understanding, however, may be limited. Their general delight in talking is accompanied by an outgoing, friendly personality, usually perceived as an asset. Sometimes they can be over-friendly with strangers, overstepping conventional social boundaries. A notable interest in music is common, including sensitivity to rhythm and melody, and they may learn to play an instrument. But there are also other aspects of their personality, including feelings of anxiety and insecurity, which may deepen over the years and cause depression or obsessive-compulsive disorder, especially in women with the syndrome. Anxiety and phobias are common, in both children and adults.

Children with the syndrome are often perceived as demanding and contradictory, and therefore difficult to guide and provide with adequate stimulation, even in comparison with other children with the same degree of intellectual disability. However, both children and adults with the syndrome are mostly perceived as very sociable, genuinely interested in people they meet, and having a remarkable capacity for recognizing and remembering faces and other people. Others have difficulties with social interaction, verbal and non-verbal communication and behaviour, to the extent that the diagnostic criteria for autism spectrum disorders (autistic syndrome, autism-like disorders) are fulfilled. One study reported that 10 per cent of preschoolers with Williams syndrome had autism.

Children and adolescents with the syndrome often have severe concentration problems, to the extent that they can be said to have attention deficit hyperactivity disorder (ADHD). Adults may also have difficulties concentrating, but are rarely hyperactive.


The diagnosis may be suspected when the distinctive physical features and behavioural profile appear in combination with intellectual disability.

Early signs of heart defects include heart murmurs, heart failure, and poor oxygen uptake. Supravalvular aortic stenosis (SVAS) is very rare except in Williams syndrome. SVAS is diagnosed and evaluated in an ultrasound cardiogram, but both cardiac catheterization and angiography may be necessary, as well as magnetic resonance imaging (MRI). Coronary artery obstructions or symptoms of acute heart failure may be life-threatening conditions, sometimes necessitating early surgery.

As the syndrome may be difficult to recognize in very young children, the diagnosis is often established relatively late. If the child has SVAS, it is often the paediatric cardiologist who first suspects the diagnosis. As supravalvular aortic stenosis occurs more commonly in boys, they are likely to be diagnosed earlier than girls. It is probable that a considerable number of intellectually disabled adults have Williams syndrome, but have not been accurately diagnosed.

The diagnosis is confirmed by DNA analysis, using sensitive diagnostic tools such as FISH, MPLA and array CGH.

At the time of diagnosis it is important that the family is offered genetic counselling. Carrier and prenatal diagnostics, as well as pre-implantation genetic diagnostics (PGD) in association with IVF (in vitro fertilization), are available but are usually not necessary, as in most cases the risk of recurrence is low.


It is important that assessment and treatment are coordinated by a paediatrician who has an overview of the child’s condition. Treatment focuses on alleviating symptoms and compensating for functional impairments.

Children with supravalvular aortic stenosis are usually diagnosed early in life. Severe cases of SVAS require surgical intervention as soon as possible. In moderate cases surgery can be postponed until the child is older. Other major vessels may also be obstructed and occasionally require surgery. Long-term follow-up is necessary and should be performed by a paediatric or adult cardiologist. A couple of Swedish university hospitals have set up special divisions known as GUCH (Grown Up Congenital Heart disease) units, providing treatment and monitoring for people with congenital heart anomalies.

If the child has elevated blood calcium levels it may be necessary to adjust the diet in order to reduce calcium intake. This change should be carried out attentively with help from a dietitian.

As diabetes is common in Williams syndrome and may develop in childhood, regular monitoring is essential in order to detect and manage the symptoms as early as possible.

Impaired thyroid hormone production (hypothyroidism) is treated on a daily basis with synthetic thyroid hormone pills. The level of thyroxine in the blood is checked regularly.

Children with eating and speech problems (dysphagia) should receive oral motor stimulation and training at an early stage. Large hospitals have specialist dysphagia teams for managing swallowing disorders.

In rare cases severe eating problems may persist, in which case nutritional fluids can be administered through a feeding tube in the stomach. The surgical procedure to provide access to the stomach through the abdominal wall is known as percutaneous endoscopic gastrostomy (PEG).

It may be difficult for these children to brush their teeth properly and they need regular preventive dental care to maintain oral hygiene. Between the ages of 7 and 9 an orthodontist should be consulted to evaluate teething and bite development and plan potential treatment. Special precautions must be taken as certain dental procedures may cause heart valve infection in individuals with a heart condition. In these cases, preventive antibiotics should be used.

If the child is hypersensitive to sound, hearing should be assessed, and vision should be evaluated in cases of squinting so that any refractory problems can be dealt with.

The first evaluation of the child’s development should be made in the preschool years. Follow-up should be carried out, both before the child begins school and later, for example in the transition between primary and secondary school. This evaluation is undertaken by a psychologist and provides information on the child’s level of development and uneven ability profile, helping parents and teachers determine the level of demands that can be placed on the child. There is otherwise a considerable risk of raising expectations too high as it is easy to overrate the child’s capacity on the basis of well-developed social and language skills, while neglecting other, much weaker sides. It is also important to determine whether the child is autistic or has autistic traits, as this will influence the choice of pedagogy. Most of these children, not only those with autistic traits, require stable routines in their everyday lives in order to maintain a sense of structure and order.

Some children with the syndrome have attention and hyperactivity problems to the extent that medical treatment should be considered. A cardiologist should be consulted if a central nervous system stimulant, such as methylphenidate, is prescribed for a child with a heart defect.

The distinctive anxiety and psychological vulnerability associated with Williams syndrome may develop into depression in adolescence and adulthood. In adults with the syndrome depressions are very common, often with a strong element of anxiety and sometimes phobic fears, severely interfering with day-to-day functioning. Psychological support and medical treatment may be beneficial. Hypersensitivity to sound and phobias can in many cases be effectively treated using cognitive behaviour therapy.

Adults with the syndrome require regular monitoring, for example to detect any cardiovascular abnormalities. These examinations should be carried out approximately every two years. Mild supravalvular aortic stenosis that has not been treated surgically in childhood sometimes worsens and may cause symptoms of heart failure, requiring treatment. Other vascular lesions may present, causing a variety of symptoms depending on the location. The risk of high blood pressure has attracted particular attention in recent years, and the pressure should be measured regularly. It is particularly important to measure the blood pressure in the arms and legs in order to detect any arterial blockages.

A general practitioner can carry out many of these check-ups, but it is essential that he or she is provided with detailed information specifying which examinations are particularly important. Some evaluations should be carried out by a medical specialist, for example in cases of high blood pressure, which may be difficult to assess and treat in individuals with Williams syndrome.

Many adults with the syndrome have problems with diverticulae in the colon, causing abdominal pain and sometimes inflammation (diverticulitis). In order to prevent this condition it is important to maintain a healthy diet and avoid constipation. Support and advice from a dietician may be helpful. In cases of recurring abdominal pain or severe constipation a thorough colon examination is required.

Several studies show that the characteristic behavioural and cognitive profile associated with Williams syndrome to some extent remains consistent into adulthood.

Children with Williams syndrome require early habilitation. A habilitation team includes professionals with special expertise in how disability affects everyday life, health and development. Help is available within the medical, educational, psychological, social and technical fields. Habilitation may include assessments, treatment, assistance with choice of aids, information about disabilities and counselling. It may also include information about support offered by the local authority as well as advice on the way the home and other environments can be adapted to the child’s needs. Parents and siblings can also receive support. In addition, the family may also need help in coordinating different forms of assistance.

The measures focus on existing needs, may vary over time and occur in collaboration with individuals close to the child. Support from a physiotherapist will stimulate the child’s motor development. Many children require contact with a speech and language therapist for assessment and to stimulate the development of language and communication skills as well as oral motor skills.

A developmental assessment lays the basis for providing guidance on how to understand and approach the child, taking his or her individual resources and limitations into account. If the child is autistic or has autistic traits, it is particularly important to establish stable routines in their everyday life and to provide support adapted to their needs. The child’s developmental profile also determines the choice of schooling. Most children with the syndrome require special education.

The local authority can offer different forms of support to facilitate the family’s everyday life. Respite care can for example be provided, in the form of a contact family or short-term accommodation outside the home.

Adults with the syndrome usually require continued habilitative interventions and daily life support, for example in the form of special housing, offering assistance in managing daily living skills and organizing activities. Physiotherapy should be continued in order to prevent joint stiffness and restricted mobility.

Practical advice


National and regional resources in Sweden

Swedish regional and university hospitals have the resources and overall expertise required to diagnose Williams syndrome.

A neuropaediatric and neuropsychiatric team specializing in children and young people with rare disabilities is located at the Queen Silvia Children’s Hospital in Gothenburg, Sweden. Williams syndrome is one of the diagnoses included in this category.

Expertise in orofacial problems can be found at Mun-H-Center, Institute of Odontology in Gothenburg, Medicinaregatan 12A, SE-413 90 Gothenburg, Sweden. Tel: +46 31 750 92 00, fax: +46 31 750 92 01, email mun-h-center@vgregion.se, www.mun-h-center.se.

Resource personnel

Senior Physician Britt-Marie Anderlid, Astrid Lindgren Children’s Hospital and Department of Clinical Genetics, Karolinska University Hospital, Solna, SE-171 76 Stockholm, Sweden. Tel: +46 8 517 700 00.

Professor Christopher Gillberg, The Gillberg Neuropsychiatry Centre, University of Gothenburg, Kungsgatan 12, SE-411 19 Gothenburg, Sweden. Tel: +46 31 342 59 70.

Senior physician Peder Rasmussen, Unit of Paediatric Neuropsychiatry, Division of Neurology, Neuropsychiatry and Habilitation, The Queen Silvia Children’s Hospital, Otterhällegatan 12A, SE-411 18 Gothenburg, Sweden. Tel: +46 31 342 52 55.

Psychologist Kit Wadensjö, Section for Rare Diseases/ Information Unit for Habilitation & Health - Stockholm County Council, Box 17056, SE-104 62 Stockholm, Sweden. Email: kitwadensjo@telia.com. Kit Wadensjö can also be reached via Kristina Bonnier, Section for Rare Diseases, tel: +46 8123 350 23, email: kristina.gustafsson-bonnier@sll.se.

Paediatric cardiologists

Senior physician Håkan Wåhlander, MD, PhD, The Queen Silvia Children’s Hospital, SE-416 85 Gothenburg, Sweden. Tel: +46 31 343 10 00.

Assistant senior physician Ulf Ergander, Paediatric Cardiology Unit, Astrid Lindgren Children’s Hospital, Karolinska University Hospital, Solna, SE-141 76 Stockholm, Sweden. Tel: +46 8 517 700 00.

Muscle teams for adults

Senior physician Peter Eriksson, MD, PdD, GUCH Unit, Sahlgrenska University Hospital/Östra, SE-416 85 Gothenburg, Sweden. Tel: +46 31 343 10 00.

Senior physician Eva Mattsson, GUCH Unit, Karolinska University Hospital, Solna, SE-171 76 Stockholm, Sweden. Tel: +46 8 517 700 00.

Senior physician Ulf Thilén, GUCH Unit, Skåne University Hospital, SE-221 85 Lund, Sweden. Tel: +46 46 17 10 00.

Courses, exchanges of experience, recreation

The Swedish Williams Syndrome Association organizes family gatherings a few days every year for knowledge dissemination and exchange of experiences. Further information is provided by the Williams Syndrome Association (see under “Patient Organizations”).

The section for rare diseases within the Stockholm County Disability and Habilitation Unit organizes education days focusing on Williams syndrome for parents and relatives. Contact Kristina Gustafsson Bonnier, tel: +46 8 123 350 23, email: kristina.gustafsson-bonnier@sll.se, www.habilitering.nu/forumfunktionshinder.

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. The centre, located near Gothenburg, is open to families from the whole of Sweden and focuses particularly on the needs of children and young people with rare diseases. 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.

Organizations for the disabled/patient associations etc.

The Williams Syndrome Association in Sweden, chair: Annelie Thulin, tel: +46709819626, email: ordforanden@williamssyndrom.sewww.williamssyndrom.se. This association was founded in 1993 and has a network that comprises five regions, each with its own contact person. The association is also part of a European network of Williams syndrome associations: Federation of European Williams Syndrome Associations (FEWS), www.eurowilliams.org.

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.

FUB, The Swedish National Association for Persons 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.

The Autism and Asperger Association, Bellmansgatan 30, SE-118 47 Stockholm, Sweden. Tel: +46 8 702 05 80, fax: +46 8 644 02 88, email: info@autism.se, www.autism.se.

Courses, exchanges of experience for personnel

Education days for staff working with children and young people with rare diseases. 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

A great deal of international research focuses on mapping the links between genes and their functions in Williams syndrome. The aim is to attain a better understanding of the syndrome and perhaps offer new treatments. Brain studies of people with Williams syndrome using the latest technologies (such as functional magnetic resonance imaging) provide new insights, for example about correlations between brain function and symptoms.

The long-term risk of high blood pressure has attracted considerable attention in recent years. The ELN deletion decreases blood vessel elasticity, causing plaque build-up and high blood pressure. Trials of a new drug to stimulate the production of elastic tissue in blood vessels are ongoing in several parts of the world. The hope is to prevent high blood pressure in Williams syndrome.

There are several ongoing studies of the learning process in young children with Williams syndrome. Neuropsychological tests are used to monitor the early development of these children. Large studies of adults with the syndrome are also ongoing, focusing on psychosocial adaptation and mental health in a wide perspective as well as analysing the need for supportive interventions.

Information material

Short summaries of all the database texts are available as leaflets, in Swedish only. They can be printed out or ordered by selecting the Swedish version, and then clicking on the leaflet icon which will appear under “Mer hos oss” in the column on the right-hand side.

Williams syndrome. An information leaflet that can be ordered from the Williams Syndrome Association (see under “Organizations for the disabled/patient associations”). It is also available at www.williams-syndrom.se.

Embraceable. A film about Williams syndrome. Documentary available at UR Play: http://www.ur.se/Produkter/169672-De-karleksfulla, and via the website of the Swedish Williams Syndrome Association: www.williams-syndrom.se.

The Swedish Williams Syndrome Association publishes a newsletter four times per year, which is also available at www.williams-syndrom.se.

Both the UK and the German Williams Syndrome Associations provide information in their websites: www.williams-syndrome.org.uk, www.w-b-s.de.

Newsletters from Ågrenska on Williams syndrome, no. 424 (2012) and no. 307, (2007). (In Swedish only.) Newsletters are edited summaries of lectures delivered during 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.

Ågrenska has also published the Easy Reader Williams Syndrome for Adults (in English)


Belugi U, St.George M. Journey from cognition to brain to gene. Perspectives from Williams syndrome. Cambridge, MA: The MIT Press 2001.

Semel E, Rosner S.R. Understanding Williams syndrome. Behavioural patterns and interventions. Mahwah: Lawrence Erlbaum Associates, Publishers 2003.


Asada K, Ikatura S. Social phenotypes of autism spectrum disorders and Williams syndrome: similarities and differences. Front Psychol 2012; 3: 247.

Bellugi U, Bihrle A, Jernigan T, Trauner D, Doherty S. Neuropsychological, neurological and neuroanatomical profile of Williams syndrome. Am J Med Genet Suppl 1990; 6:115-125.

Bernardino I, Mouga S, Castelo-Branco M, van Asselen M. Egocentric and allocentric spatial representations in Williams syndrome. J Int Neuropsychol Soc 2012; 25:1-9.

Blomberg S, Rosander M, Andersson G. Fears, hyperacusis and musicality in Williams syndrome. Res Dev Disabil 2006; 27: 668-680.

Campos-Lara P, Santos-Diaz MA, Ruiz-Rodriquez MS, Garrocho-Rangel JA, Pozos-Guillén AJ. Orofacial findings and dental management of Williams-Beuren syndrome. J Clin Pediatr Dent 2012; 36: 401-404.

Dykens EM. Anxiety, fears, and phobias in persons with Williams syndrome. Dev Neuropsychol 2003; 23: 291-316.

Dykens EM. The Williams syndrome behavioral phenotype. The ‘whole person’ is missing. Curr Opin Psychiatry 2003; 16: 523-528.

Einfeld SL, Tonge BJ, Rees VW. Longitudinal course of behavioral and emotional problems in Williams syndrome. Am J Ment Retard 2001; 106: 73-81.

Francke U. Williams – Beuren syndrome: genes and mechanisms. Hum Mol Genet 1999; 8: 1947-1954.

Frangiskakis JM, Ewart AK, Morris CA, Mervis CM, Bertrand J, Robinson BF et al. LIM-kinase 1 hemizygosity implicated in impaired visuospatial constructive cognition. Cell 1996; 86: 59-69.

Gillberg C, Rasmussen P. Brief report: four case histories and literature review of Williams syndrome and autistic behaviour. J Autism Dev Disord 1994; 24: 381-393.

Greenberg F. Williams syndrome professional symposium. Am J Med Genet Suppl 1990; 6: 85-88.

Hertzberg J, Nakisbendi L, Needleman HL, Pober B. Williams syndrome - oral presentation of 45 cases. Pediatr Dent 1994; 16: 262-267.

Howlin P, Udwin O. Outcome in adult life for people with Williams syndrome – results from a survey of 239 families. J Intellect Disabil Res 2006; 50(Pt 2): 151-160.

Ignacio RC Jr, Klapheke WP, Stephen T, Bond S. Diverticulitis in a child with Williams syndrome: a case report and review of the literature. J Pediatr Surg 2012; 47; E33-35.

Jones KL. Williams syndrome: An historical perspective of its evolution, natural history and etiology. Am J Med Genet Suppl 1990; 6: 89-96.

Kaplan P, Wang PP, Francke U. Williams (Williams Beuren) syndrome: a distinct neurobehavioural disorder. J Child Neurol 2001; 16: 177-190.

Lense M, Dykens E. Musical learning in children and adults with Williams syndrome. J Intellect Disabil Res 2012 Sep 14: under publication.

Levitin DJ, Bellugi U. Musical abilities in individuals with Williams syndrome. Music Perception 1998; 15: 358-389.

Levitin, DJ, Cole K, Chiles M., Lai Z, Lincoln A, Bellugi U. Characterizing the musical phenotype in individuals with Williams syndrome. Child Neuropsychol 2004; 10: 223-247.

Mervis CB, Velleman SL. Children with Williams syndrome: language, cognitive, and behavioral characteristics and their implications for intervention. Perspect Lang Learn Educ 2011; 18: 98-107.

Mervis CB. Williams syndrome: 15 years of psychological research. Dev Neuropsychol 2003; 23: 1-12.

Nickerson E, Greenberg F, Keating MT, McCaskill C, Shaffer LG. Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome. Am J Hum Genet 1995; 56: 1156-1161.

Pober BR, Johnson M, Urban Z. Mechanisms and treatment of cardiovascular disease in Williams - Beuren syndrome. J Clin Invest 2008; 118: 1606-1615.

Pober BR, Morris CA. Diagnosis and management of medical problems in adults with Williams-Beuren syndrome. Am J Med Genet C Semin Med Genet 2007; 145: 280-290.

Schmitt JE. Williams syndrome. Recent developments. Curr Opin Psychiatry 2001; 14: 451-456.

Strømme P, Bjørnstad PG, Ramstad K. Prevalence estimation of Williams syndrome. J Child Neurol 2002; 17: 269-271.

Udwin O. A survey of adults with Williams syndrome and idiopathic infantile hypercalcaemia. Dev Med Child Neurol 1990; 32: 129-141.

Udwin O, Yule W. Expressive language of children with Williams syndrome. Am J Med Genet Suppl 1990; 6: 108-114.

Waxler JL, Levine K, Pober BR. Williams syndrome: a multidisciplinary approach to care. Pediatr Ann 2009; 38: 456-463.

Database references

OMIM (Online Mendelian Inheritance in Man)
Search: Williams syndrome

GeneReviews (University of Washington)
www.genetests.org (select “GeneReviews”, then “Titles”)
Search: Williams syndrome

Orphanet (European database)
Search: Williams 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 senior physician Peder Rasmussen, The Queen Silvia Children’s Hospital, Gothenburg, Sweden.

The relevant organizations 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.

Date of publication: 2013-12-27
Version: 2.1
Publication date of the Swedish version: 2013-02-20

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.


About the database

This knowledge database provides information on rare diseases and conditions. The information is not intended to be a substitute for professional medical care, nor is it intended to be used as a basis for diagnosis or treatment.