The achondroplasia clinic  

This leaflet explains more about the achondroplasia clinic held at the Evelina London

hildren’s Hospital. If you have any further questions, please speak to a doctor or nurse aring for you.

Cc What is achondroplasia? Achondroplasia is a condition caused by a change in one of the genes called FGFR3 that results in short stature (dwarfism). It is usually detected after birth or occasionally during the last three months of pregnancy. Children with achondroplasia are not as tall as other children because their legs are shorter. They also have shorter arms, an exaggerated curve to the lower back, a larger head size, shorter fingers and toes, increased joint flexibility and a characteristic facial appearance with a broad forehead and a flattened nasal bridge. Every child with achondroplasia has the same change (mutation) in the same gene called FGFR3, which is important in the development and growth of the skeleton. Most are born to parents of average stature. There is a range of complications and associated conditions that might occur in children with achondroplasia, from relatively mild treatable issues, such as glue ear, to much more severe problems that can be treated if detected, such as compression of the spinal cord at the base of the skull, where bone may be extra thick. Generally though, the life-span of someone with achondroplasia is normal, as is their level of intelligence. What is the achondroplasia clinic? It is a dedicated clinic for children with achondroplasia that aims to:

• look out for any emerging complications through regular check-ups and tests • offer support for families and provide information and practical advice to help children

lead fulfilled, happy, independent lives • create opportunities for children with achondroplasia and their families to meet others

with the condition and draw inspiration and friendship from each other. We use charts specifically for children with achondroplasia to track their growth and development, which follow a different pattern to other children. In the clinic the children will meet specialists in achondroplasia from the following areas:

• paediatric endocrinology/growth specialists • clinical genetics • occupational therapy.

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The appointment lasts about 40 minutes. During this time you will have time to speak to all the specialists about your child and ask questions.

• your child will be measured by the growth specialist • you will be asked about their health and how they are getting on • your child will be examined by the specialists to detect any problems and reassure you

all is well. • if any tests are needed, such as X-rays or blood tests, we will organise these for you.

If any concerns are raised about potential complications, onward referral to a team of other specialists with expertise in achondroplasia will be made, including:

• paediatric orthopaedics • dentistry and orthodontics • neurosurgery • ear, nose and throat (ENT) • respiratory paediatrician • physiotherapy.

Plans for the next appointment will be decided before you leave. After you have visited the clinic, you will be sent a detailed report summarising what was covered during the appointment, as well as any test results. Your child may be invited to take part in research projects about achondroplasia, how it affects children’s growth, overall well-being, health and development. As new potential therapies are discovered, your child could be invited to take part in clinical trials.  Who can attend / receive the service? Aa 

ny child with achondroplasia can come to this clinic. Some children with hypochondroplasia, related, but less severe condition, are also welcome.

Where do I need to go? The clinic is held in the Ocean paediatric outpatient area at the Evelina London Children’s Hospital, St Thomas’ Hospital, Lambeth Palace Road, London, SE1 7EH. Children under the age of two attend every six months and older children can come every year. We liaise with ocal paediatric clinics too to ensure that children with achondroplasia always receive the heck-ups they need.

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oes it cost anything? here is no cost.

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Useful sources of information The Restricted Growth Association (RGA): www.restrictedgrowth.co.uk The Child Growth Foundation (CGF): www.childgrowthfoundation.org Contact a Family: www.cafamily.org.uk

Contact us If you need more information about the clinic or if you have any questions about your child’s clinic appointment, please contact: The Clinical Genetics Department, 7th Floor, Borough Wing, Guy’s Hospital, Great Maze Pond, London SE1 9RT Tel 020 7188 1364

Pharmacy Medicines Helpline If you have any questions or concerns about your medicines, please speak to the staff caring for you or call our helpline. t: 020 7188 8748 9am to 5pm, Monday to Friday Patient Advice and Liaison Service (PALS) To make comments or raise concerns about the Trust’s services, please contact PALS. Ask a member of staff to direct you to the PALS office or: t: 020 7188 8801 at St Thomas’ t: 020 7188 8803 at Guy’s e: pals@gstt.nhs.uk Knowledge & Information Centre (KIC) For more information about health conditions, support groups and local services, or to search the internet and send emails, please visit the KIC on the Ground Floor, North Wing, St Thomas’ Hospital. t: 020 7188 3416 Language support services If you need an interpreter or information about your care in a different language or format, please get in touch using the following contact details. t: 020 7188 8815 fax: 020 7188 5953 NHS Choices Provides online information and guidance on all aspects of health and healthcare, to help you make choices about your health. w: www.nhs.uk Become a member of your local hospitals, and help shape our future Membership is free and it is completely up to you how much you get involved. To become a member of our Foundation Trust, you need to be 18 years of age or over, live in Lambeth, Southwark, Lewisham, Wandsworth or Westminster or have been a patient at either hospital in the last five years. To join: t: 0848 143 4017 e: members@gstt.nhs.uk w: www.guysandstthomas.nhs.uk Leaflet number: 3737V1

Date published: July 2013Review date: July 2016

© 2013 Guy’s and St Thomas’ NHS Foundation Trust 3 of 3