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What is achondroplasia?

Achondroplasia is one of the most common forms of skeletal dysplasia. It is often referred to as a condition causing restriction in growth or short stature. It affects 1 in 15,000 to 1 in 40,000 babies.

Achondroplasia is a condition caused by a change in a gene called FGFR3. The gene carries the instructions for the body to make a particular protein.

In achondroplasia, the change in this gene is in every cell of the body. Its main effect is in the tissues that make up the growing skeleton. This results in shortened limbs, slowed growth, short stature and changes in the shape and size of parts of the skull.

What does achondroplasia do the body?

Features can include a larger and more prominent forehead. The bridge of the nose may also appear flatter. Due to the shape of the passage between the mouth and middle ear, ear infections and problems such as glue ear are more common in children with achondroplasia.

Children often have more flexibility within their joints in their hands, arms and legs. This is sometimes called hypermobility or hyperlaxity.

Sometimes curvature of the legs can develop as a child grows.

Children with achondroplasia may also develop curvature within the lower part of the back called a thoracolumbar kyphosis. Other complications can arise as a result of narrowing of the gaps in the skull and bones of the back, through which the spinal cord passes.

How might my child be affected in day-to-day life?

In general, children with achondroplasia are happy and can achieve independence in everyday life. These are things that we hope to help you and your child achieve.

Achondroplasia can bring some challenges. Some of these are due to short stature or short limbs and some are not.

Equipment may be needed to help your child be independent with their daily activities.

We have other resources for nursery age children, primary school aged children, and secondary school aged children that might help you to understand some of the practical challenges. They include ways in which these challenges can be overcome with the support of the occupational therapist and physiotherapist.

What is occupational therapy and physiotherapy?

Children with achondroplasia benefit from the input of occupational therapy and physiotherapy to help with their development and participation in everyday life.

Occupational therapists work with children and their families to promote independence skills within everyday activities. They also help your child’s development and the learn important skills from birth through to adulthood. These may include tasks such as:

  • feeding
  • washing
  • dressing
  • toileting
  • attending nursery or school
  • taking part in play and socialisation

Physiotherapists can help with maintaining an active lifestyle, staying healthy and fit.

Occupational therapists and physiotherapists work closely alongside each other and the rest of the team.

How does the team in Sheffield provide a service to families?

In Sheffield there is a specialist team called the Metabolic Bone Disease Team. Much of their care is provided through contact with families in one of their outpatient clinics, some of which are dedicated almost wholly to children with achondroplasia. Attending our specialist clinic will give you the opportunity to ask any questions you may have about your child’s condition. These may be about your child’s development, mobility, schooling or any other issues that you may wish to raise.

Our clinics are generally multidisciplinary. This means that you will have access to a range of specialists who can offer any necessary advice and support within the clinic, typically a medical consultant, a specialist occupational therapist and a specialist physiotherapist.

Your child may have members of the team visits their school and your home, and have access to local therapy teams if needed.

Your child may need to be seen by other specialists outside the multidisciplinary clinic. These referrals can be made if your child needs them.

Names of professionals met in the clinic



Occupational therapist:

Clinical nurse specialist:

Contact us

If you have any questions or concerns, please contact the metabolic bone disease team on 0114 226 7890 or email Sheffield.boneteam@nhs.net

Occupational Therapists: Jill Birch, Kieran Murphy, Nicola Holland

Physiotherapists: Claire Hill, Davina Ford, Caroline Marr

Nursing: Gemma Greenacre, Liz Lee, Clare Crossland, Becky Dhillon

Is something missing from this resource that you think should be included? Please let us know

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Please note: this is a generic information sheet relating to care at Sheffield Children’s NHS FT. These details may not reflect treatment at other hospitals. This information is not intended as a substitute for professional medical care. Always follow your healthcare professionals’ instructions. If this resource relates to medicines, please read it alongside the medicine manufacturer’s patient information leaflet. If this information has been translated into another language from English, efforts have been made to maintain accuracy, but there may still be some translation errors. If you are unsure about any of the guidance in this resource or have specific questions about how it relates to your child, always ask your healthcare professional for further advice.

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