eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Achondroplasia: Follow-up

Author: Germaine L Defendi, MD, MS, FAAP, Associate Clinical Professor, Department of Pediatrics, Olive View-UCLA Medical Center
Contributor Information and Disclosures

Updated: Aug 14, 2009

Follow-up

Further Outpatient Care

The following recommendations for the medical management and follow-up care of patients with achondroplasia were presented at the First International Symposium on Human Achondroplasia held in Rome, Italy in 1986:

  • Growth and head circumference measurements plotted on growth curves standardized for achondroplasia
  • Thorough neurologic examinations to include clinical assessment as well as CT scan, MRI, somatosensory-evoked potentials, and polysomnography
  • Appropriate medical care for recurrent middle ear infections and dental crowding associated with the craniofacial features seen in achondroplasia.

Complications

  • Complications include cervicomedullary compression, spinal stenosis, restrictive and obstructive lung disease, otitis media, and tibial bowing. Other possible complications include development of thoracolumbar kyphosis, symptomatic hydrocephalus, or symptomatic upper cord compression.

Prognosis

  • Most individuals with achondroplasia have normal intelligence, lead independent and productive lives and have a normal life expectancy.

Patient Education

  • Genetic counseling: Discuss the genetics of cause, recurrence risk, and prenatal diagnosis with families.
  • Support groups may help in the following ways:
    • Provide practical information regarding solutions to problems in daily living, such as clothing and furniture resources
    • Provide emotional and psychosocial support for patients and their caregivers living with achondroplasia in today's society.
    • The following are excellent resources to give families assistance:
      • Little People of America, Inc
        Phone: 1-888-LPA-2001 (1-888-572-2001)
        Web site: www.lpaonline.org
      • March of Dimes (MOD)
        Phone: 1-914-997-4488
        Web site: www.marchofdimes.com
      • Human Growth Foundation (HGF)
        Phone: 1-800-451-6434
        Web site: www.hgfound.org
      • Coalition for Heritable Disorders of Connective Tissue
        Phone: 1-888-LPA-2001 (thru Little People of America)
        Web site: www.chdct.org
      • International Skeletal Dysplasia Registry
        Phone: 1-800-CEDARS-1 (1-800-233-2771)
        Web site: www.csmc.edu 
  • The following information is adapted from "Health Supervision for Children with Achondroplasia" by the American Academy of Pediatrics Committee on Genetics, published in September 2005:4
    • Prenatal visits - Geneticists, obstetricians, and/or pediatricians to educate parents regarding the disorder, inheritance, and prognosis for offspring
    • Infants
      • Review the personal support available to the family.
      • Review contact with support groups.
      • Review the increased risk of serous otitis media due to short eustachian tubes. Indicate that an ear examination is needed with any upper respiratory tract infection.
      • Avoid infant carriers that place the infant in a curled-up position. This does not apply to car safety seats, which should always be used during automobile travel.
    • Early childhood (1-5 y)
      • Discuss adapting the home so the child can become independent (lower the light switches and faucets and supply step stools).
      • Discuss adapting age-appropriate clothing with snapless easy-opening fasteners and tuckable loops.
      • Discuss adaptation of toys, especially tricycles, to accommodate short limbs.
      • Discuss adaptation of toilets to allow comfortable independent use, with an extended wand for wiping.
      • Discuss the use of a stool during sitting so that the child's feet are not hanging. Feet need support while the child is sitting in a chair. A cushion behind the child's back may be required for good posture.
      • Discuss orthodontic bracing in the future and the possible need for braces in children older than 5 years.
      • Encourage the family to develop activities in which the affected child can take part; avoid gymnastics, high diving, acrobatics, and collision sports.
      • Discuss how to talk with the child, friends, and family members about short stature.
      • Encourage preschool attendance so that the child can learn to socialize in an age-appropriate way, and work with parents to prepare the teacher and other children so that the child does not receive unnecessary special privileges.
      • Discuss toileting procedures and special preparations needed because of the child's short stature with school staff.
      • Discourage the child from jumping to decrease unnecessary stress on the joints and spine.
    •  Late childhood (5-13 y)
      • Discuss preparation of school personnel and furnishings to accommodate the child's stature.
      • Prepare the child for psychosocial situations, and teach the child how to discuss issues.
      • Be sure children can explain their short stature and can ask for help in an appropriate way.
      • Children with achondroplasia usually are included in the regular education program.
      • Suggest adaptive aids in the school to help the child cope with heavy doors, high doorknobs, blackboard use, and a regular-sized desk, and ask the school to provide foot support. In addition, be sure that the child can use the restroom independently.
    • Adolescence to early adulthood (13-21 y)
      • Revisit the diagnosis to ensure that the adolescent has command of the vocabulary and understanding of the diagnosis and genetic etiology of achondroplasia.
      • Discuss contraception and the options available. Women with achondroplasia are fertile and as such, reproductive options and potential for pregnancy outcomes and complications should be addressed.
      • Continue weight counseling to review the importance of weight control and eating habits to minimize the risk of obesity and the comorbid complications associated with excessive weight gain.
      • Assist the individual to establish an independent lifestyle. Fostering the ability to obtain a driver's license can help. Drivers require certain vehicle modifications, such as pedal extenders. The Association for Driver Rehabilitation Specialists (ADED) helps those who have certain transportation needs and vehicle adaptations.

Miscellaneous

Medicolegal Pitfalls

Preventing serious complications of achondroplasia involves taking a careful history and promptly referring the patient to appropriate subspecialists.

  • Suspect possible cervicomedullary compression with a history of pain, ataxia, incontinence, and apnea. Evaluate the patient for brisk reflexes, a small foramen magnum, and central hypopnea, which are indications for surgery to release cord compression. Failure to recognize severe compression and to take appropriate measures thereafter can result in respiratory arrest and progressive quadriparesis.
  • Patients with recurrent otitis media may need evaluation for language delay due to hearing loss.
  • Sleep disturbances and an increasing occipitofrontal circumference (OFC) indicates referrals to appropriate subspecialists to address neurologic and respiratory abnormalities.

Special Concerns

  • Pregnancy: Radiographic evaluation of the pelvis of a woman with achondroplasia is recommended before pregnancy to assess for narrow pelvis and to properly prepare for difficulties with vaginal delivery.
 
Acknowledgments

The authors and editors of eMedicine gratefully acknowledge the contributions of previous authors Joo-Hee Grace Park, DO and Robert Wallerstein, MD, to the original writing and development of this article.



More on Achondroplasia

Overview: Achondroplasia
Differential Diagnoses & Workup: Achondroplasia
Treatment & Medication: Achondroplasia
Follow-up: Achondroplasia
Multimedia: Achondroplasia
References
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Further Reading

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Keywords

achondroplasia, short stature, chondrodysplasia, chondrodystrophy, skeletal dysplasia, osteochondrodysplasia, disproportionate short stature, short-limb dwarfism, hypotonia in infancy, megalencephaly, occipitofrontal circumference, OFC, midface hypoplasia, prominent forehead, frontal bossing, rhizomelic limbs, trident hands, brachydactyly, thoracolumbar gibbus, lumbar kyphosis, caudal narrowing of interpedicular spaces, lumbar lordosis, 4p16.3, fibroblast growth factor receptor-3 gene, FGFR3 gene, paternal age effect, autosomal dominant, treatment, diagnosis

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Contributor Information and Disclosures

Author

Germaine L Defendi, MD, MS, FAAP, Associate Clinical Professor, Department of Pediatrics, Olive View-UCLA Medical Center
Germaine L Defendi, MD, MS, FAAP is a member of the following medical societies: Ambulatory Pediatric Association and American Academy of Pediatrics
Disclosure: Nothing to disclose.

Medical Editor

James Bowman, MD, Senior Scholar of Maclean Center for Clinical Medical Ethics, Professor Emeritus, Department of Pathology, University of Chicago
James Bowman, MD is a member of the following medical societies: Alpha Omega Alpha, American Society for Clinical Pathology, American Society of Human Genetics, Central Society for Clinical Research, and College of American Pathologists
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Hagop Youssoufian, MD, MSc, Vice President of Clinical Research, ImClone Systems Incorporated
Hagop Youssoufian, MD, MSc is a member of the following medical societies: American Society for Clinical Investigation, American Society of Clinical Oncology, American Society of Hematology, and American Society of Human Genetics
Disclosure: Nothing to disclose.

CME Editor

Paul D Petry, DO, FACOP, FAAP, Consulting Staff, Freeman Pediatric Care, Freeman Health System
Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

 
 
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