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Disease Profile
Achondroplasia
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
Neonatal
ICD-10
Q77.4
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
ACH; Achondroplastic dwarfism
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
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 (macrocephaly), small fingers, and normal intelligence. Achondroplasia can cause health complications such as interruption of breathing (apnea), obesity, recurrent ear infections, an exaggerated inward curve of the lumbar spine (
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Bowing of the legs |
Bowed legs
Bowed lower limbs
[ more ] |
0002979 |
Thoracolumbar kyphosis | 0005619 | |
30%-79% of people have these symptoms | ||
Abnormality of the shape of the midface | 0430026 | |
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
Short fingers or toes
|
0001156 | |
Central sleep apnea | 0010536 | |
Cervical spinal canal stenosis | 0008445 | |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
Frontal bossing | 0002007 | |
Functional abnormality of the middle ear | 0011452 | |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Hip joint hypermobility | 0045087 | |
Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
Knee joint hypermobility |
Knee joint over-flexibility
|
0045086 |
Limited elbow extension |
Decreased elbow extension
Elbow limited extension
Limitation of elbow extension
Limited extension at elbows
Limited forearm extension
Restricted elbow extension
[ more ] |
0001377 |
Lumbar hyperlordosis |
Excessive inward curvature of lower spine
|
0002938 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
Obstructive sleep apnea | 0002870 | |
Parietal bossing | 0000242 | |
Short long bone |
Long bone shortening
|
0003026 |
Short middle phalanx of finger |
Short middle bone of finger
|
0005819 |
Short nasal bridge |
Decreased length of bridge of nose
Decreased length of nasal bridge
Short bridge of nose
[ more ] |
0003194 |
Short proximal phalanx of finger |
Short innermost finger bones
|
0010241 |
Trident hand | 0004060 | |
5%-29% of people have these symptoms | ||
Abnormality of the wing of the ilium | 0011867 | |
Darkened and thickened skin
|
0000956 | |
Flat acetabular roof | 0003180 | |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hypoxemia |
Low blood oxygen level
|
0012418 |
Narrow greater sciatic notch | 0003375 | |
Obesity |
Having too much body fat
|
0001513 |
Restrictive ventilatory defect |
Stiff lung or chest wall causing decreased lung volume
|
0002091 |
Rhizomelia |
Disproportionately short upper portion of limb
|
0008905 |
Thoracic hypoplasia |
Small chest
Small thorax
[ more ] |
0005257 |
Wide anterior fontanel |
Wider-than-typical soft spot of skull
|
0000260 |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Brain stem compression | 0002512 | |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 |
Flared metaphysis |
Flared wide portion of long bone
|
0003015 |
Generalized joint laxity |
Hypermobility of all joints
|
0002761 |
Genu varum |
Outward bow-leggedness
Outward bowing at knees
[ more ] |
0002970 |
Limited hip extension |
Restricted hip extension
|
0003093 |
Lumbar kyphosis in infancy |
Hunched back in infancy
Round back in infancy
[ more ] |
0008414 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Megalencephaly | 0001355 | |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
Motor delay | 0001270 | |
Neonatal short-limb |
Short limb dwarfism recognizable at birth
Short-limb dwarfism identifiable at birth
Short-limbed dwarfism identifiable at birth
[ more ] |
0008921 |
Recurrent otitis media |
Recurrent middle ear infection
|
0000403 |
Short femoral neck |
Short neck of thighbone
|
0100864 |
Small foramen magnum |
Little foramen magnum
Narrow foramen magnum
[ more ] |
0002677 |
Spinal stenosis with reduced interpedicular distance | 0005733 | |
Upper airway obstruction | 0002781 |
Cause
Diagnosis
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.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment
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
•
• 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
• 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.
https://www.ncbi.nlm.nih.gov/books/NBK1152/#achondroplasia.Management
Management Guidelines
- The National Guideline Clearinghouse (NGC) is a public resource for evidence-based clinical practice guidelines. The NGC was originally created by the Agency for Healthcare Research and Quality (AHRQ) in partnership with the American Medical Association and the American Association of Health Plans.
- Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Little People of America, Inc.
617 Broadway #518
Sonoma, CA 95476
Toll-free: 1-888-572-2001
Telephone: +1-714-368-3689
Fax: +1-707-721-1896
E-mail: [email protected]
Website: https://www.lpaonline.org/ -
Little People UK
P.O Box 1292
Peterborough
PE2 2NT
United Kingdom
Telephone: 07925893398
E-mail: [email protected]
Website: https://littlepeopleuk.org/ -
The MAGIC Foundation
4200 Cantera Dr. #106
Warrenville, IL 60555
Toll-free: 800-362-4423
Telephone: 630-836-8200
Fax: 630-836-8181
E-mail: [email protected]
Website: https://www.magicfoundation.org/
Organizations Providing General Support
-
Human Growth Foundation
997 Glen Cove Avenue, Suite 5
Glen Head, NY 11545
Toll-free: 1-800-451-6434
Fax: 516-671-4055
E-mail: [email protected]
Website: https://www.hgfound.org/
Learn more
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.
Where to Start
- John's Hopkins Medicine has an information page on this topic. Click on the link above to view the information page.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- MedlinePlus Genetics contains information on Achondroplasia. This website is maintained by the National Library of Medicine.
- The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Achondroplasia. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Totter TL, Hall JG, Committee on Genetics. Health Supervision for Children With Achondroplasia. Pediatrics 2005;116;771-783.
References
- Achondroplasia. Genetics Home Reference. May 2012; https://ghr.nlm.nih.gov/condition=achondroplasia.
- Pauli RM. Achondroplasia. GeneReviews. February 2012; https://www.ncbi.nlm.nih.gov/books/NBK1152/.
- Bacino CA. Achondroplasia. UpToDate. November 15, 2017; https://www.uptodate.com/contents/achondroplasia.
- Learning About Achondroplasia. National Human Genome Research Institute (NHGRI). May 11, 2012; https://www.genome.gov/19517823.
- Defendi GL. Genetics of Achondroplasia. Medscape Reference. May 16, 2014; https://emedicine.medscape.com/article/941280-overview.
- Totter TL, Hall JG, Committee on Genetics. Pediatrics. 2005; 116:771. https://pediatrics.aappublications.org/content/pediatrics/116/3/771.full.pdf.
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