- Achondroplastic dwarfism
Your QuestionMy son has achondroplasia. He can sit up without support, but he does not walk, talk, or interact much with his surrounding environment. I have seen many specialists in my country. I am worried about his delays. Most doctors have recommended that I watch and wait. I would like to learn more about langauge and motor development in children with achondroplasia. How are infants and children with achondroplasia treated?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
- What is achondroplasia?
- Do infants with achondroplasia have learning disabilities?
- What are the signs of an intracranial bleed?
- What are the signs and symptoms of apnea in infants and children?
- How might apnea in children with achondroplasia be treated?
- How might achondroplasia affect motor development?
- Do children with achondroplasia tend to talk at a normal age?
- How might children with achondroplasia be treated?
- How can I find a genetics professional in my area?
Learning ability in infants with achondroplasia is usually normal. Problems with learning and development may occur as a secondary consequence of hydrocephalus (the build-up of fluid around the brain) or other complications involving the brain and spinal cord, for example:
• Intracranial bleeds in a newborn following vaginal delivery
• Apnea (abnormal breathing patterns)
• Brainstem compression
Individuals with achondroplasia should be cared for by appropriate specialists. Careful monitoring for signs of complications is important. Early recognition and treatment of these complications can have lifelong impacts on the quality of life of the infant, child, and adult.
Infants with achondroplasia often have low muscle tone (mild to moderate) and difficulty supporting their heads. This difficulty is both because of the low muscle tone as well as due to their large head size. As a result, motor skills may be delayed. Motor delays (e.g. delays in sitting, crawling, standing, walking, and grasping) are normal for children with achondroplasia.
Children with achondroplasia are also at risk for developing “kyphosis” or curving of the spine. Because of this, unsupported sitting is not recommended until adequate trunk muscle strength is obtained. Fabric/soft back strollers, and soft canvas seats should be avoided during the first year of life. If kyphosis develops, assessment by a specialist (e.g., orthopedic surgeon) may be recommended to determine if bracing is needed.
Other serious complications of achondroplasia such as hydrocephalus and spinal cord compression may also cause motor skills to be impaired. Serious complications arising during infancy affect around 5% to 10% of infants with achondroplasia.
Children with achondroplasia need careful monitoring for ear infections and speech delays should prompt a hearing assessment. A formal speech evaluation should be done no later than 2 years of age.
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.
Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.
The following online resources can help you find a genetics professional in your community:
- The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- Achondroplasia. Genetics Home Reference. May 2012; http://ghr.nlm.nih.gov/condition=achondroplasia.
- Pauli RM. Achondroplasia. GeneReviews. February 2012; http://www.ncbi.nlm.nih.gov/books/NBK1152/.
- Totter TL, Hall JG, Committee on Genetics. Pediatrics. 2005; 116:771. http://pediatrics.aappublications.org/content/pediatrics/116/3/771.full.pdf.
- Common conditions treated in the NICU. March of Dimes. August 2014; http://www.marchofdimes.org/complications/common-conditions-treated-in-the-nicu.aspx.