Treatments for Achondroplasia

What is the treatment for achondroplasia?

No specific treatment is available for achondroplasia. Children born with achondroplasia need to have their height, weight and head circumference monitored using special growth curves standardized for achondroplasia. Measures to avoid obesity at an early age are recommended.

A magnetic resonance imaging (MRI) or CT scan may be needed for further evaluation of severe muscle weakness (hypotonia) or signs of spinal cord compression. To help with breathing, surgical removal of the adenoids and tonsils, continuous positive airway pressure (CPAP) by nasal mask, or a surgical opening in the airway (tracheostomy) may be needed to correct obstructive sleep apnea.

When there are problems with the lower limbs, such as hyperreflexia, clonus or central hypopnea, then surgery called suboccipital decompression is performed to decrease pressure on the brain.

Children who have achondroplasia need careful monitoring and support for social adjustment.

Source: NHGRI (NIH)1

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Back to: « Achondroplasia

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Recommendations for management of children with achondroplasia were outlined by the American Academy of Pediatrics Committee on Genetics in the article, Health Supervision for Children with Achondroplasia. We recommend that you review this article with your child's health care provider(s). These recommendations include:[2]

  • Monitoring of height, weight, and head circumference using growth curves standardized for achondroplasia
  • Measures to avoid obesity starting in early childhood.
  • Careful neurologic examinations, with referral to a pediatric neurologist as necessary
  • MRI or CT of the foramen magnum region for evaluation of severe hypotonia or signs of spinal cord compression
  • Obtaining history for possible sleep apnea, with sleep studies as necessary
  • Evaluation for low thoracic or high lumbar gibbus if truncal weakness is present
  • Referral to a pediatric orthopedist if bowing of the legs interferes with walking
  • Management of frequent middle-ear infections
  • Speech evaluation by age two years
  • Careful monitoring of social adjustment

The GeneReview article on achondroplasia also provides information on medical management.

Last updated: 2/20/2013

Source: GARD (NIH)2

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Treatment for restricted growth

Treatment with growth hormone injections may benefit some people with restricted growth and can help a child with the condition grow more than they otherwise would.

In cases of DSS where the legs are particularly short, a leg-lengthening procedure is sometimes used, but there's some uncertainty about its safety and effectiveness.

Read more about treatments for restricted growth.

Source: NHS Choices UK3

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Some people with restricted growth (dwarfism) may be able to have growth hormone treatment or leg-lengthening surgery.

Source: NHS Choices UK4

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Growth hormone medication

The National Institute for Health and Care Excellence (NICE) recommends human growth hormone treatment (somatropin) as an option for children whose poor growth is linked to:

NICE also recommends it for some children who are born small and fail to catch up in growth by the age of 4 or later.

Somatropin treatment should be started and monitored by a child health specialist with expertise in managing growth hormone disorders in children (paediatric endocrinologist).

The hormone is given as a single daily injection, which can usually be done by a parent, carer, or by the child when they're old enough.

Skin reactions are the most commonly reported side effect. In very rare cases, the treatment is associated with persistent severe headaches, vomiting and vision problems.

Children with growth hormone deficiency respond very well to somatropin and may be able to reach a relatively normal adult height. The effectiveness in children with other conditions can vary.

Somatropin treatment may stop once your child stops growing, but in some cases it may be given into adulthood because it can sometimes help prevent problems such as weak bones (osteoporosis).

For more information, read the NICE guidelines about:

Source: NHS Choices UK5

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Leg-lengthening surgery

If you have particularly short legs, a leg-lengthening process known as distraction may be an option.

Using surgery, the leg bone is broken and fixed to a special frame. With the support of the frame, the leg is stretched, allowing new bone to form in between the two broken ends of bone.

Over time, this bone gets stronger until it's able to support your weight.

Distraction can sometimes result in a significant increase in height, but it's a lengthy treatment and has a risk of complications, so isn't always recommended.

Some people have pain during or after the limb-lengthening procedure.

Other possible complications include:

There's also some uncertainty about the safety and effectiveness of the procedure.

It's therefore important that you understand exactly what it involves and talk to your surgeon or doctor about the risks if it's suggested as a possible treatment for you or your child.

For more information, read the NICE guidelines about:

Intramedullary distraction for lower limb lengthening

Source: NHS Choices UK6

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Support and treatment for related problems

As restricted growth can be associated with several related conditions and problems, affected children and adults will be cared for by a multidisciplinary team of healthcare professionals.

This team may include:

  • a paediatrician (child health specialist)
  • a nurse specialist
  • a physiotherapist
  • an occupational therapist
  • a dietitian
  • an audiologist (hearing specialist)
  • a speech and language therapist
  • a neurologist (specialist in nervous system disorders)
  • an orthopaedic surgeon
  • a geneticist

You may have regular check-ups with members of your care team so your health can be monitored and any problems that develop can be treated.

Source: NHS Choices UK7

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  1. Source: NHGRI (NIH): 19517823/ learning-about-achondroplasia/ 
  2. Source: GARD (NIH): diseases/ 8173/ achondroplasia
  3. Source: NHS Choices UK: conditions/ Restricted-growth/ 
  4. Source: NHS Choices UK: conditions/ restricted-growth/ treatment/ 
  5. ibid.
  6. ibid.
  7. ibid.

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Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.