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Diseases

Genetic and Rare Diseases Information Center (GARD)

Other Names for this Disease
  • ACH
  • Achondroplastic dwarfism
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Your Question

My 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?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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

Do infants with achondroplasia have learning disabilities?

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:[1][2]

• 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.

Last updated: 11/4/2009

What are the signs of an intracranial bleed?

Because newborns with achondroplasia have a large head size, they are at an increased risk for bleeding in the brain due to injury during a vaginal delivery. Brain bleeds are usually given a number from 1 to 4, with 4 being the most severe. Mild brain bleeds may resolve on their own with no or few lasting problems. More severe bleeds can cause short or long term difficulties and require careful monitoring of the baby’s development throughout infancy and childhood.
Last updated: 8/13/2009

What are the signs and symptoms of apnea in infants and children?

In babies, apnea occurs when breathing stops for 15 to 20 seconds or more.[3] Snoring is often a sign of apnea, however most children with achondroplasia snore. Obstructive apnea or disordered breathing in sleep may be suspected if the child has increased retraction, glottal stops, choking, intermittent breathing, deep compensatory sighs, secondary bed wetting, recurrent night-time awakening or vomiting. If these signs are present then additional lung and sleep studies are recommended.[2][4]
Last updated: 8/13/2009

How might apnea in children with achondroplasia be treated?

Treating apnea in children with achondroplasia may help to improve neurologic function. Treatment may include adenotonsillectomy (removal of tonsils), weight reduction, continuous positive airway pressure (CPAP) by nasal mask, and, in very rare instances, tracheostomy or other surgeries to improve breathing. Surgeries on children with achondroplasia should only be done by surgeons intimately familiar with the surgical care of children with this condition because extra care must be taken when using anesthesia and intubating people with achondroplasia.[2]
Last updated: 8/13/2009

How might achondroplasia affect motor development?

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.[2] 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. Becuase of this unsupported sitting is not recommended unitl 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 specialsist (e.g., orthopedic surgeon) may be recommended to determine if bracing is needed.[4]

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.[4]

Last updated: 11/4/2009

Do children with achondroplasia tend to talk at a normal age?

Typically by 18 months children are able to say around 10 words.  Children with achondroplasia may experience speech delays due to recurrent ear infections. Recurring ear infections can cause conductive hearing loss and may affect language and speech development.

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.[4]
Last updated: 11/4/2009

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

How can I find a genetics professional in my area?

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:

Last updated: 8/2/2013

References