Condition AZ: r

Also known as: Broad Thumb-great Toe syndrome

Background

Rubinstein-Taybi syndrome (RTS) is a rare genetic condition, characterised by distinctive facial and physical differences. 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, short stature and constipation Seizures may occur. There is a small increase in the chance of developing tumours (mainly leukaemia). 

Credits

Last updated October 2019 by Dr Zerin Hyder, Clinical Genetics Specialty Trainee, and reviewed by Dr Siddharth Banka, Consultant Clinical Geneticist at St Mary’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 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.

Developmental delay occurs in most children with RTS. Most people 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 autistic behaviour. Other behavioural problems may include poor concentration, reduced tolerance to noise and crowds, impulsive behaviour, instability of mood and high pain tolerance. Some will show self-stimulatory behaviours, such as rocking and hand-flapping.

Individuals with RTS tend to be shorter than average 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 are known to 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 50-60% of affected individuals, and in the EP300 gene in approximately 10% of affected individuals. Some cases of RTS are caused by a small missing piece (deletion) of genetic material from chromosome 16. Many genes, including CREBBP, are missing as a result of this deletion. This is thought to account for cases of RTS that are associated with more serious complications.

Approximately 30% of people with RTS do not have a gene change in CREBBP, EP300 or a deletion in chromosome 16. In these cases, the cause of RTS is unknown, but researchers predict that changes in other genes are responsible for the condition.

More recently, specific gene changes in CREBBP and EP300 have been also reported in association with a condition that is distinct from RTS, called Menke-Hennekam syndrome. This condition has a very different set of signs and symptoms to RTS.

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 up to 70% of affected individuals.

How is it treated?

The management of RTS is directed towards identifying the specific problems an individual has and treating them as appropriate, for example, treatment of heart problems or 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 a genetic test identifies the cause in an affected person, parents can be tested. The risk of recurrence is very low, and even if testing the parents is not possible; the chance of a second affected child is around 1%.  If 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: info@rtsuk.org.uk
Website: rtsuk.org.uk

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 reviewed November 2019.

Also known as: German measles

If your child is affected by a medical condition or disability we can help. Call our freephone helpline on 0808 808 3555 to get information, support and advice. You can also browse our range of parent guides on aspects of caring for a disabled child in our resource library.

Meet other parents online in our closed Facebook group

Please see below for reliable medical information on Rubella produced by alternative providers.

NHS website
www.nhs.uk/conditions

Patient UK
www.patient.info/health

Although alternative links have been selected with great care, Contact  cannot accept responsibility for any inaccuracies or errors. Alternative information providers give details of their quality control procedures on their website, which includes review of information by a qualified medical professional.

Is there support?

There is no support group for rubella in the UK. Information and support for Deafness associated with rubella is provided by Sense (see entry Deafblindness). Meet other parents online in our closed Facebook group

If your child is affected by a disability or medical condition we can help. Call our freephone helpline on 0808 808 3555 to get information, support and advice. You can also browse our range of parent guides on aspects of caring for a disabled child in our resource library.

To meet other parents see support groups below or meet other parents online in our closed Facebook group

Please see below for reliable medical information on Reye syndrome produced by alternative providers.

NHS website
www.nhs.uk/conditions

Although alternative links have been selected with great care, Contact  cannot accept responsibility for any inaccuracies or errors. Alternative information provide give details of their quality control procedures on their website, which includes review of information by a qualified medical professional.

Is there support?

National Reye’s Syndrome Foundation UK

Email: via website
Website: reyessyndrome.co.uk

The Foundation is a Registered Charity in England and Wales No. 1057744. It provides information and support to parents of children affected by Reye’s syndrome and Reye-like illnesses. The Foundation funds research into the cause, treatment, care and prevention of these conditions. 

Group details last reviewed June 2022.

Background

Rett syndrome is a condition that affects the nervous system, causing problems with learning and development. It affects girls almost exclusively. Although the syndrome is present from birth, symptoms and signs most commonly appear during the second year. People with Rett syndrome are almost always totally dependent on others for their needs throughout their lives, but severity may vary considerably.

Credits

Last updated August 2016 by Dr H Cass, Neurodisability Consultant, Evelina Children’s Hospital, London, 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?

Babies with Rett syndrome are usually placid and inactive with slow learning. Within a few months of birth, the child’s head size may fail to increase at the normal rate indicating that the brain is not growing.

Between 1-3 years:

  • the abnormal hand movements which are characteristic of the condition appear, such as complex finger movements, with twisting and squeezing of the hands
  • this is usually associated with loss of hand skills, speech, and early motor skills
  • the child may be agitated and distressed and breathing may become irregular
  • there may be short non-epileptic ‘vacant’ spells.

The early agitation usually settles after a year or two.

Later development:

  • affected children usually have problems with poorly regulated muscle tension. Some girls do not achieve walking, and those that do walk tend to have a broad-based gait.
  • there is a tendency to develop scoliosis
  • other problems include feeding difficulties, periodic agitation and breathing problems
  • most girls are non-verbal
  • epilepsy may occur, usually between 5-10 years.

Despite these symptoms, many individuals with Rett syndrome continue to live well into middle age and beyond. They enjoy social contact, and seem to be particularly responsive to music.

What are the causes?

A mutation on MECP2, a gene at the tip of the X chromosome, is the cause of the condition in the majority of people affected. There are other less common genetic conditions which result in a similar clinical picture including CDKL5, another gene on the X chromosome, associated with more severe and early onset epilepsy and FOXG1 syndrome.

How is it diagnosed?

Doctors will suspect Rett syndrome by observing typical signs during a child’s early development. Brain scans may confirm poor growth of the brain. The diagnosis is confirmed by carrying out a molecular test (testing the DNA to look for a mutation) in the MECP2 gene or rarely CDKL5 or FOXG1. However, if the clinical signs are present a child may still receive a diagnosis of Rett syndrome, even with negative genetic findings.

How is it treated?

Treatment focuses on management of the symptoms. Medication may be needed to improve breathing irregularities and help with movement difficulties, and anticonvulsants can be used to control seizures. There should be regular monitoring for scoliosis. Possible heart conduction abnormalities should be evaluated with an electrocardiogram (ECG).

Physiotherapy can improve mobility. A brace may help with scoliosis and hand splints can be used to help improve hand function. In those who are not mobile, good adaptive seating is essential. Special nutrition can improve weight gain and the growth of a child. Some children will go on to need a gastrostomy (surgical opening through the abdomen into the stomach) for feeding.

Inheritance patterns and prenatal diagnosis

Inheritance patterns
Most cases are due to sporadic mutation (occurring by chance). In these cases, the risk of another child being affected is very low. Families should seek advice from their regional genetics centre.

Prenatal diagnosis
Prenatal diagnosis is possible where the mutation has been identified in an individual family. The possibility of prenatal diagnosis is best investigated in advance of a pregnancy. Advice may be obtained from a regional genetics centre.

Is there support?

Rett UK

Helpline: 01582 798 911
Email: support@rettuk.org
Website: rettuk.org

The Organisation is a Registered Charity in England and Wales No. 1137820 and in Scotland No. SCO47369. It provides information and support for families affected by Rett syndrome. The Organisation has a network of local support groups and offers regional roadshow events.

Group details last updated May 2019.

Reverse Rett

Tel: 0161 434 8117
Email: enquiries@reverserett.org.uk
Website: reverserett.org.uk

Reverse Rett is a Registered Charity in England and Wales No. 1136809. It provides information and support on Rett syndrome and related MECP2 disorders, and runs a private Facebook forum for families. The Charity is also actively involved in fundraising for research initiatives, and also offers a parent mentoring and linking scheme.

Group details confirmed August 2016.

Also known as: 13q Deletion syndrome

If your child is affected by a medical condition or disability we can help. Call our freephone helpline on 0808 808 3555 to get information, support and advice. You can also browse our range of parent guides on aspects of caring for a disabled child in our resource library.

To meet other parents see support groups below or meet other parents online in our closed Facebook group

Please see below for reliable medical information on Retinoblastoma produced by alternative providers.

NHS website
www.nhs.uk/conditions

Although alternative links have been selected with great care, Contact  cannot accept responsibility for any inaccuracies or errors. Alternative information providers give details of their quality control procedures on their website, which includes review of information by a qualified medical professional.

Is there support?

Childhood Eye Cancer Trust

Tel: 020 7377 5578
Email: support@chect.org.uk
Website: chect.org.uk

The Trust is a Registered Charity in England and Wales No. 327493. It provides information and support for families and individuals affected by retinoblastoma. The Trust has support workers who are there for families attending retinoblastoma clinics for treatment, screening and beyond. It also offers regional meet-ups and linking. 

Group details last reviewed June 2022.

Background

Retinitis pigmentosa (RP) is the name given to a group of genetic conditions of the retina, the light-sensitive tissue at the back of the eye. The retina converts light images to nerve signals and sends them to the brain.

The most sensitive part of the retina is small area of the central retina called the macula. The macula contains a few million specialised photoreceptors called cone cells – these work best in bright light levels and are used for reading, writing and to recognise colours. The rest of the retina, called the peripheral retina, is mostly made up of A type of photoreceptor called rod cells. Rod cells enable us to see when light is dim and provide peripheral vision.

Credits

Medical text written November 2012 by Professor AT Moore, Professor of Ophthalmology, UCL Institute of Ophthalmology and Moorfields Eye Hospital, London, UK.

What are the symptoms?

In these conditions the retina slowly degenerates losing its ability to transmit images to the brain. In advanced stages of the conditions, characteristic clumps of pigment appear in the retina. Often the first symptom is night blindness, followed by narrowing of side vision leading to ‘tunnel’ vision.

What are the causes?

All cases of RP are inherited and a large number of genes have been implicated in causing the condition. In most cases, the peripheral rod cells are affected first with the central cone cells being affected later.

RP can also be associated with other problems such as hearing loss. These rare conditions are referred to as RP syndromes, for example, Usher syndrome.

How is it diagnosed?

A number of tests can be used to diagnose RP:

  • retina examination – eye drops are given to dilate the pupils so the retina can be viewed easily
  • retinal photographs and specialised retinal imaging – a photograph may be taken of the retina using a special camera.
  • visual field test – this checks whether peripheral vision has been affected. The person looks straight ahead at a particular point in the bowl-shaped screen in a darkened room and then dim lights or a moving light are presented in the peripheral field. Each time a spot dots of light is seen the person being tested clicks a button
  • colour vision tests – the person will be asked to look at a booklet that shows numbers composed of different coloured dots
  • electro-diagnostic tests – the electrical activity of the retina is measured under different lighting conditions and this identifies layers of the retina that are not working properly. This involves having a small wire or thread placed on the eye lids and another on the scalp whilst having watching flashing lights.

How is it treated?

Treatment focuses on managing the symptoms of RP. Wearing sunglasses to protect the retina from ultraviolet light may help preserve vision. For those patients who have poor central vision it can help to see a low-vision specialist, who can help people adapt to vision loss. Regular visits to an eye care specialist, who can detect cataracts or swelling of the retina – both of which can be treated – is essential.

Some studies have suggested that treatment with antioxidants (such as high doses of vitamin A palmitate) may slow the disease but high doses of vitamin A can cause side effects. Several clinical trials are in progress to investigate other dietary treatments for RP, including the omega-3 fatty acid, docosahexaenoic acid (DHA).

Other new treatments such as the use of biological growth factors and gene replacement therapy are being evaluated in clinical trials. Microchip implants that are placed under or on the surface of the retina and stimulate the nerve cells directly are in the early stages of development for treating blindness associated with RP and other serious eye conditions.

Inheritance patterns and prenatal diagnosis

Inheritance patterns
For RP inheritance may be autosomal dominant, autosomal recessive or Inheritance of RP may be autosomal dominant, autosomal recessive or X-linked. Affected families should be referred to a genetics centre for information and support

Prenatal diagnosis
Prenatal diagnosis is now possible in some forms of RP and other inherited retinal disorders, but only in those cases where the genetic change causing the condition has been identified.

Is there support?

Retina UK

Helpline: 0300 111 4000
Email: services@retinauk.org.uk
Website: retinauk.org.uk

Retina UK is a Registered Charity in England and Wales No. 1153851. Retina UK is the national charity for families living with inherited retinal dystrophies. They fund research and provide information and support to those affected by inherited sight loss and the professionals who support them.

They support anyone with the following visual impairments: Retinitis Pigmentosa (RP), Rod Cone dystrophy, Cone Rod dystrophy, Choroideremia, Leber congenital amaurosis (LCA), Bardet-Biedl syndrome (BBS), Usher syndrome, Stargardt disease.

Their helpline is operated by volunteers all directly affected with a genetic eye disorder, who genuinely understand the issues faced with daily living. They also offer Talk and Support – for people who prefer a regular call from someone who is affected with inherited sight loss and can offer a listening ear, provide information, hints and tips.

Group details last updated October 2020.

If your child is affected by a medical condition or disability we can help. Call our freephone helpline on 0808 808 3555 to get information, support and advice. You can also browse our range of parent guides on aspects of caring for a disabled child in our resource library.

To meet other parents see support groups below or meet other parents online in our closed Facebook group

We no longer hold a description of Restricted Growth. You may find it more helpful to search for a particular or specific condition in our online medical information instead.

Other UK sites with trusted health information:

NHS website
www.nhs.uk

Patient UK
www.patient.co.uk

Although alternative links have been selected with great care, Contact acannot accept responsibility for any inaccuracies or errors. Alternative information providers give details of their quality control procedures on their website, which includes review of information by a qualified medical professional.

Is there support?

Restricted Growth Association (RGA)

Tel: 0300 111 1970
Email: office@restrictedgrowth.co.uk
Website: restrictedgrowth.co.uk

The Association is a Registered Charity in England and Wales No. 261647. It provides information and support to people of restricted growth and their families. The Association provides a network for adults and children throughout the UK, and offers an annual national convention, youth trips, family outings and regional events.  

Group details last updated June 2021.

Child Growth Foundation

Tel: 0208 995 0257
Email: via website
Website: childgrowthfoundation.org

The Foundation is a Registered Charity in England and Wales No. 274325. It provides information and support to children and adults with growth related problems, and their families. The conditions supported by the Foundation include Turner Syndrome, Silver Russell Syndrome, Bone Dysplasia, Sotos Syndrome, Premature Sexual Maturity and Growth Hormone Deficiency.

Group details updated June 2021.