Achondroplasia

Treatment

Are there any therapies that increase the height of people achondroplasia?

There are some ways to increase the height of people with achondroplasia. Some research has been conducted to see if growth hormone therapy will alter adult height in patients with achondroplasia. Only minimal increases are noticed when using this therapy. Limb lengthening is a technique that has been used to increase height with more success. An additional 12-14 inches of height can be added when this process is implemented. It is not recommended to begin until a child understands the procedure and its impact. In North America, limb lengthening is not commonly done. There are numerous considerations to be made about the potential benefits and risks before limb lengthening is pursued.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1152/
  • http://genefacts.org/index.php?option=com_content&view=article&id=471&Itemid=640
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What actions can reduce the risk for obesity in people with achondroplasia?

How is hydrocephalus treated for patients with achondroplasia?

What treatments are available for sleep apnea in patients with achondroplasia?

What are the first steps after an initial diagnosis of achondroplasia?

Is there a treatment for achondroplasia?

What actions can reduce the risk for obesity in people with achondroplasia?

Although the risk for obesity is higher for people with achondroplasia than in the general population, the same strategies should be used for people with achondroplasia as for those without. It is important to start good diet and exercise practices in childhood. Height to weight charts designed specifically for children with achondroplasia have been developed to help people stay healthy. As of December 2015, no body mass index (BMI) calculators have been created for people with achondroplasia. For people with achondroplasia, current BMI calculations will be a misrepresentation of the person's actual health. Growth charts for individuals with achondroplasia can be found in the American Academy of Pediatrics' publication, Health Supervision for Children With Achondroplasia.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1152/
  • http://pediatrics.aappublications.org/content/116/3/771
How is hydrocephalus treated for patients with achondroplasia?

Should hydrocephalus create pressure inside the skull on the brain, an individual should see a neurosurgeon for evaluation. Generally, the preferred procedure to treat hydrocephalus in achondroplasia is ventriculoperitoneal shunting over third ventriculostomy.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1152/
What treatments are available for sleep apnea in patients with achondroplasia?

Depending on the severity of the sleep apnea, treatment recommendations may vary. Weight reduction or use of a continuous positive airway pressure (CPAP) machine during sleep may be suggested. Surgical intervention, like adenotonsillectomy (removal of adenoids and tonsils) or tracheostomy (breathing tube) for severe circumstances may also be discussed.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1152/
  • http://genefacts.org/index.php?option=com_content&view=article&id=471&Itemid=640
What are the first steps after an initial diagnosis of achondroplasia?

After an initial diagnosis of achondroplasia in a newborn baby, the following steps are recommended:

  • Genetics clinic appointment
  • Skeletal Dysplasia clinic appointment, if possible
  • Comparison of a child's height, weight, and head size to other children of their age with achondroplasia
  • CT scan of brain to acquire baseline
  • Supervision of the craniocervical junction (skull to spine connection): healthcare provider should take a neurologic history, provide a clinical examination, and order a CT scan of the craniocervical junction. A sleep study should also be offered.

You can see a list of management guidelines by reviewing the Gene Facts web page about management of achondroplasia.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1152/
  • http://genefacts.org/index.php?option=com_content&view=article&id=471&Itemid=640
Is there a treatment for achondroplasia?

There is not an FDA-approved general treatment for achondroplasia at this time, but there are some in clinical trials. There are some treatments available for certain symptoms and there are medical management guidelines that should be followed. Combinations of these two practices can improve the quality of life of people with achondroplasia. Limb lengthening is a controversial technique available to increase height, but it is not commonly done in North America, and there are numerous considerations to be made about the potential benefits and risks before limb lengthening is pursued.

You can see information about different types of treatment that individuals with achondroplasia may undergo by reviewing the Gene Facts web page about management of achondroplasia.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1152/
  • http://genefacts.org/index.php?option=com_content&view=article&id=471&Itemid=640

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