The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the metaphyses||90%|
|Abnormality of the ribs||90%|
|Depressed nasal bridge||90%|
|Abnormal form of the vertebral bodies||50%|
|Abnormality of the teeth||50%|
|Conductive hearing impairment||50%|
|Intrauterine growth retardation||50%|
|Neurological speech impairment||7.5%|
|Spinal canal stenosis||7.5%|
|Sudden cardiac death||7.5%|
|Autosomal dominant inheritance||-|
|Brain stem compression||-|
|Generalized joint laxity||-|
|Infantile muscular hypotonia||-|
|Limited elbow extension||-|
|Limited hip extension||-|
|Lumbar kyphosis in infancy||-|
|Neonatal short-limb short stature||-|
|Recurrent otitis media||-|
|Short femoral neck||-|
|Small foramen magnum||-|
|Spinal stenosis with reduced interpedicular distance||-|
|Upper airway obstruction||-|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
International Skeletal Dysplasia Society Conference: Sixth International Conference Sunday, August 31, 2003 -
Sunday, August 24, 2003
Location: Airlie House Conference Center, Warrenton, VA
Description: The International Skeletal Dysplasia Society (ISDS) is an international organization of medical geneticists, orthopedists, radiologists, and other professionals dedicated to research and patient care for the skeletal dysplasias. The organization has a membership of more than 150 professionals who meet every 2 years to present ongoing basic and clinical research and explore collaborative opportunities. This conference highlighted the areas most in need of attention and stimulated interest in and action toward addressing those needs. Participants included the members of the ISDS and their trainees as well as others who are working in the broad fields of skeletal biology, signal transduction, and metabolic bone disease.
Contact: Dr. Claire A. Francomano(301) 402-8255
Co-funding Institute(s): National Institute on Aging
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
Are there certain ethnic groups or peoples especially susceptible/prone to achondroplasia? Are there any environmental factors, or is it purely genetic? See answer
My sister has achondroplasia. There are no other cases in the family. My husband's family does not have a history of achondroplasia. What are the chances of my future children having achondroplasia? See answer
Is prenatal diagnosis available for achondroplasia? See answer
Can a couple have a child with achondroplasia if one of the parents have the syndrome? See answer
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? See answer