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Diseases

Genetic and Rare Diseases Information Center (GARD)

Other Names for this Disease
  • ACH
  • Achondroplastic dwarfism
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Overview



What is achondroplasia?

How might children with achondroplasia be treated?


What is achondroplasia?

Achondroplasia is a disorder of bone growth that prevents the changing of cartilage (particularly in the long bones of the arms and legs) to bone. It is characterized by dwarfism, limited range of motion at the elbows, large head size, small fingers, and normal intelligence. Achondroplasia can cause health complications such as apnea, obesity, recurrent ear infections, and lordosis of the spine. Achondroplasia is caused by mutations in the FGFR3 gene. It is inherited in an autosomal dominant fashion.[1][2]
Last updated: 8/4/2011

How might children with achondroplasia be treated?

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. 
http://www.ncbi.nlm.nih.gov/books/NBK1152/#achondroplasia.Management

Last updated: 2/20/2013

References
  1. Achondroplasia. Genetics Home Reference. June 2006; http://ghr.nlm.nih.gov/condition=achondroplasia. Accessed 8/4/2011.
  2. Francomano CA. Achondroplasia. GeneReviews. January 2006; http://www.ncbi.nlm.nih.gov/books/NBK1152/. Accessed 8/4/2011.
  3. Totter TL, Hall JG, Committee on Genetics. Pediatrics. 2005; http://pediatrics.aappublications.org/cgi/reprint/116/3/771. Accessed 5/9/2010.