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Rubinstein-Taybi syndrome

Also known as: Broad Thumb-great Toe syndrome

Background

Rubinstein-Taybi syndrome (RTS) is a rare genetic condition. The most striking physical feature is broad, sometimes angulated thumbs and first toes. The facial features vary with age and include a prominent nose, full lower lip and down-slanting eyes. Undescended testes occur in males. Other variable features include congenital (present from birth) heart disease and kidney abnormalities, eye and hearing problems, increased keloid (scar tissue) formation, unusually shaped teeth, feeding difficulties in infancy, and constipation. Seizures may occur. There is a small increase in the chance of developing tumours (mainly leukaemia). 

Credits

Last updated August 2015 by Dr Jenny Higgs, Clinical Genetics Specialist Registrar, and Professor Bronwyn Kerr, Consultant Clinical Geneticist, Royal Manchester Children's Hospital, Manchester, UK.

Although great care has been taken in the compilation and preparation of all entries to ensure accuracy, we cannot accept responsibility for any errors or omissions. Any medical information is provided is for education/information purposes and is not designed to replace medical advice by a qualified medical professional.

What are the symptoms?

Children with RTS usually have a normal birth weight, but subsequent growth is poor, with most children being of short stature with a small head size. Problems that may occur in early life include breathing difficulties, feeding problems, poor weight gain, recurrent infections, and constipation.

Most people with RTS have moderate to severe learning difficulties, although a few have mild learning difficulties (see entry Learning Disability). They may have particular problems with expressive language and often benefit from using sign language. Most children become self-sufficient in eating, dressing and toileting.

Usually individuals with RTS have friendly and sociable personalities; however, many will find change in routine difficult and show signs of autism. Other behavioural problems may include poor concentration, decreased tolerance for noise and crowds, impulsivity, moodiness and high pain tolerance. Some will show self-stimulatory behaviours, such as rocking and hand-flapping.

Individuals with RTS tend not to be very tall and often become overweight. This can contribute to sleep apnoea (difficulty breathing when asleep), which they are prone to due to having a narrow palate, micrognathia (small chin) and hypotonia (floppiness).

What are the causes?

Changes in two genes can cause RTS. The changes occur by chance and are not caused by anything that is done or not done during pregnancy. A change in the CREBBP gene is found in 40-60% and in the EP300 gene in 3% of affected individuals.

How is it diagnosed?

Normally RTS can be recognised in a baby or child by the characteristic facial features, broad thumbs and great toes and other symptoms consistent with the diagnosis. The diagnosis can be confirmed by genetic testing in 40-60% of affected individuals.

How is it treated?

Management is by identifying the specific problems an individual has and treating them as appropriate, for example treatment of heart problems or eye and hearing difficulties. There is no cure for the condition. Individuals will need to be managed by a multidisciplinary team of specialists who can help support their medical, educational and social care needs.

Inheritance patterns and prenatal diagnosis

Inheritance patterns
RTS is a genetic disorder that usually affects only one person in the family. If the cause in an affected person is found, parents can be tested. The risk of recurrence is very low, even if testing the parents is not possible; the chance of a second affected child is small, around 1%. If, however, an individual with RTS has children of their own, the chance for a similarly affected child may be as high as 50%.

Prenatal diagnosis
If the genetic change is known in an affected child, prenatal diagnosis may be possible to reassure parents.

Is there support?

Rubinstein Taybi Syndrome Support Group

Email: mail@rtsuk.org
www.rtsuk.org

The Group is a Registered Charity in England and Wales No. 1147765, established in 1986. It offers support to families and linking with others where possible. It has an area family network, publishes a newsletter twice a year and has an information leaflet available. The Group supports over 200 families and holds two family events a year.

Group details last updated September 2015.

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