- Achondroplastic dwarfism
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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.
- Pauli RM. Achondroplasia. GeneReviews. February 2012; http://www.ncbi.nlm.nih.gov/books/NBK1152/. Accessed 11/12/2015.
- Totter TL, Hall JG, Committee on Genetics. Pediatrics. 2005; http://pediatrics.aappublications.org/cgi/reprint/116/3/771. Accessed 5/9/2010.
- Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.
- 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. Click on the link to view the article on this topic.
- 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.
- The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Evaluation and Treatment of Skeletal Diseases which may be of interest to you.
- ClinicalTrials.gov lists trials that are studying or have studied Achondroplasia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.