Achondroplasia

What causes achondroplasia?

Achondroplasia is caused by mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Two specific mutations in the FGFR3 gene are responsible for almost all cases of achondroplasia. Researchers believe that these mutations cause the FGFR3 protein to be overly active, which interferes with skeletal development and leads to the disturbances in bone growth seen in this condition.

Last updated on 05-01-20

Is achondroplasia inherited?

Most cases of achondroplasia are not inherited. When it is inherited, it follows an autosomal dominant pattern of inheritance. About 80% of individuals who have achondroplasia have parents with average stature and are born with the condition as a result of a new ( de novo) gene alteration (mutation). Each individual with achondroplasia has a 50% chance, with each pregnancy, to pass on the mutated gene.

Last updated on 05-01-20

How many people are affected by achondroplasia?

Achondroplasia is the most common type of short-limbed dwarfism. The condition occurs in 1 in 15,000 to 40,000 newborns worldwide.

Last updated on 05-01-20

Is achondroplasia more common in a particular race or ethnic population?

Some populations appear to have a higher incidence of achondroplasia. For instance, it is estimated to occur in about 1 case in 6400 births in Denmark and about 1 case in 10,000 births in Latin America. No particular race has been documented to be more commonly affected.

Last updated on 05-01-20

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:

• 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 on 05-01-20

Selected Full-Text Journal Articles

Achondroplasia

Totter TL, Hall JG, Committee on Genetics. Health Supervision for Children With Achondroplasia. Pediatrics 2005;116;771-783.

Last updated on 04-27-20

Where To Start

John's Hopkins - Achondroplasia

John's Hopkins Medicine has an information page on this topic. Click on the link above to view the information page.

Last updated on 04-27-20

Name: European Skeletal Dysplasia Network Institute of Genetic Medicine Newcastle University
International Centre for Life Central Parkway New Castle upon Tyne
NE1 3BZ, United Kingdom
Email: info@esdn.org Url: http://www.esdn.org/eug/Home
Name: Little People of America, Inc. 617 Broadway #518
Sonoma, CA, 95476, United States
Phone: +1-714-368-3689 Toll Free: 1-888-572-2001 Fax : +1-707-721-1896 Email: info@lpaonline.org Url: https://www.lpaonline.org/
Name: The MAGIC Foundation 4200 Cantera Dr. #106
Warrenville, IL, 60555, United States
Phone: 630-836-8200 Toll Free: 800-362-4423 Fax : 630-836-8181 Email: contactus@magicfoundation.org Url: https://www.magicfoundation.org/
Name: Greenberg Center for Skeletal Dysplasias Johns Hopkins University Institute of Genetic Medicine
600 North Wolfe Street Blalock 1008
Baltimore, MD, 21287, United States
Phone: 410-614-0977 Email: deedee@jhmi.edu Url: http://www.hopkinsmedicine.org/institute-genetic-medicine/patient-care/genetics-clinic/about/greenberg-center-skeletal-dysplasia/
Name: March of Dimes 1275 Mamaroneck Avenue
White Plains, NY, 10605, United States
Phone: 914-997-4488 Toll Free: 888-663-4637 Fax : 914-997-4763 Email: http://www.marchofdimes.com/contactus.html Url: http://www.marchofdimes.com/
Name: Human Growth Foundation 997 Glen Cove Avenue, Suite 5
Glen Head, NY, 11545, United States
Toll Free: 1-800-451-6434 Fax : 516-671-4055 Email: hgf1@hgfound.org Url: http://www.hgfound.org/
Name: Little People UK P.O Box 1292 Peterborough
PE2 2NT
United Kingdom
Phone: 07925893398 Email: info@littlepeopleuk.org Url: https://littlepeopleuk.org/
Name: European Skeletal Dysplasia Network Institute of Genetic Medicine Newcastle University
International Centre for Life Central Parkway New Castle upon Tyne
NE1 3BZ, United Kingdom
Email: info@esdn.org Url: http://www.esdn.org/eug/Home

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