eMedicine Specialties > Radiology > Pediatrics

Achondroplasia: Follow-up

Author: Ali Nawaz Khan, MBBS, FRCS, FRCP, FRCR, Consultant Radiologist, North Manchester General Hospital, The Pennine Acute NHS Trust, Manchester UK
Coauthor(s): Rumana Rahim, MBBS, MRCS, FRCR, Specialist Registrar, Department of Radiology, North West Deanery, Manchester, UK; Sumaira MacDonald, MBChB, PhD, MRCP, FRCR, Lecturer, Sheffield University Medical School; Endovascular Fellow, Sheffield Vascular Institute
Contributor Information and Disclosures

Updated: Jul 22, 2008

Intervention

There is no specific treatment of achondroplasia. Associated orthopedic abnormalities, such as club feet, should be corrected.

Recommendations of the American Academy of Pediatrics Committee on Genetics

The American Academy of Pediatrics Committee on Genetics outlined recommendations for the treatment of children with achondroplasia in 1995. Their recommendations are meant to supplement guidelines available for treating children of average stature. The recommendations include but are not limited to the following:

  • Monitoring of height, weight, and head circumference by use of growth curves that are standardized for achondroplasia
  • Avoidance of obesity, starting in early childhood
  • Careful neurologic examinations, with referral to a pediatric neurologist as necessary
  • MRI or CT of the foramen magnum region to evaluate severe hypotonia or signs of spinal cord compression
  • Obtaining a history for assessment of possible sleep apnea, with use of 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 2 years of age
  • Careful monitoring of social adjustment

Treatment of obstructive sleep apnea

Treatment of obstructive sleep apnea may include adenotonsillectomy, weight reduction, continuous positive airway pressure (CPAP) by means of a nasal mask, and, in extreme cases, tracheostomy. Improvement in disturbed sleep and some improvement in neurologic function may result from these interventions.28

Growth hormone therapy

Growth hormone (GH) therapy has been proposed as a possible treatment of the short stature of achondroplasia. Initial skepticism about the utility of this approach was based on normal GH levels in children with achondroplasia and reflected a concern that the abnormal growth-plate cartilage would not improve with GH therapy. However, growth velocity increases with GH therapy, especially during the first year of treatment. Data from a number of studies suggest that growth rate increases with treatment of 1-2 years.29,30,31,32,33 The usefulness of GH treatment in achondroplasia will be known only when patients in the current studies achieve their adult height.

Surgical limb lengthening

Early experience with surgical limb-lengthening procedures resulted in a high incidence of complications, including pain, pin infections, and neurologic and vascular compromise resulting from rapid lengthening. However, recent experience shows improvement, with increases in height of up to 12-14 inches.

The best predictors of the need for suboccipital decompression include lower-limb hyperreflexia or clonus; central hypopnea, as demonstrated by polysomnography; and a reduction in foramen magnum size, as determined by means of CT of the CCJ and by comparison with the norms for children with achondroplasia.

Thomeer and van Dijk determined that in about 70% of symptomatic patients with spinal stenosis, total relief of symptoms was achieved after decompression without laminectomy.8 The L2-3 level most commonly required decompression.

Other surgical treatment

Other surgical treatment consists of anterior decompression with fusion when thoracolumbar kyphosis is prevalent, and/or posterior decompression when the symptoms are mainly caused by canal stenosis. From the prognostic point of view, 2 groups of patients are recognized in relationship to the presence of marked dorsal kyphosis. Those with kyphosis almost invariably have poor functional results. In the remaining patients, the results are satisfactory, provided that the clinical history is less than 3 years and the symptoms are not already too advanced.

Labor and delivery

Women may have difficulty during labor. It is generally recommended that infants with achondroplasia be born by means of cesarean delivery to reduce the risk of possible CNS complications with vaginal delivery.

Socialization

Because of the highly visible nature of the short stature associated with achondroplasia, affected persons and their families may encounter difficulties in socialization and adjustment in school. Support groups can assist families with these issues through peer support, personal example, and social awareness programs. Patients and families may benefit from information about employment, education, disability rights, adoption of short-statured children, medical issues, suitable clothing, adaptive devices, and parenting; such information is available through a national newsletter, seminars, and workshops.

Special Concerns

  • A family history of achondroplasia should alert parents to the possibility of their having an affected child. The typical appearance of achondroplastic dwarfism is apparent at birth.
  • Genetic counseling may be helpful for prospective parents when 1 or both parents have achondroplasia. Because achondroplasia arises as a spontaneous mutation, absolute prevention is not possible.
    • FGFR3 is not specific for achondroplasia, and other genetically related disorders may have the same genetic marker.
    • Other phenotypes associated with mutations in FGFR3 include the following: hypochondroplasia, FGFR -related craniosynostosis, thanatophoric dysplasia, and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) dysplasia.34,35
    • SADDAN dysplasia is a rare disorder characterized by extremely short stature, severe tibial bowing, profound developmental delay, and acanthosis nigricans.
    • Unlike patients with thanatophoric dysplasia, patients with SADDAN dysplasia survive past infancy.
    • The 3 unrelated patients with this phenotype who have been observed to date have had obstructive apnea, but they have not required prolonged mechanical ventilation. An FGFR3 K650M mutation was identified in all 3 individuals.36,18
  • Women may have difficulty during labor. Neonates with achondroplasia should generally be born by means of cesarean delivery to reduce the risk of possible CNS complications with vaginal delivery.
 


More on Achondroplasia

Overview: Achondroplasia
Imaging: Achondroplasia
Follow-up: Achondroplasia
Multimedia: Achondroplasia
References
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Further Reading

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Keywords

achondroplasia, osteochondrodysplasia, short-limb dwarfism, dwarfism, inborn genetic disease, bone growth disorder, bone disease, developmental bone disease, chondrodystrophia fetalis, hypoplastic chondrodystrophy, chondrodystrophies, achondroplastic dwarfism, Parrot's disease, rickets fetal, ACH, metatrophic dwarfism II, Kniest syndrome, Kniest's syndrome, pseudoachondroplasia, PSACH, FGFR3 gene

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Contributor Information and Disclosures

Author

Ali Nawaz Khan, MBBS, FRCS, FRCP, FRCR, Consultant Radiologist, North Manchester General Hospital, The Pennine Acute NHS Trust, Manchester UK
Ali Nawaz Khan, MBBS, FRCS, FRCP, FRCR is a member of the following medical societies: American Institute of Ultrasound in Medicine, Royal College of Physicians, Royal College of Physicians and Surgeons of the United States, Royal College of Radiologists, and Royal College of Surgeons of England
Disclosure: Nothing to disclose.

Coauthor(s)

Rumana Rahim, MBBS, MRCS, FRCR, Specialist Registrar, Department of Radiology, North West Deanery, Manchester, UK
Disclosure: Nothing to disclose.

Sumaira MacDonald, MBChB, PhD, MRCP, FRCR, Lecturer, Sheffield University Medical School; Endovascular Fellow, Sheffield Vascular Institute
Sumaira MacDonald, MBChB, PhD, MRCP, FRCR is a member of the following medical societies: British Medical Association, Royal College of Physicians, and Royal College of Radiologists
Disclosure: Nothing to disclose.

Medical Editor

Lori Lee Barr, MD, FACR, FAIUM, Clinical Associate Professor of Radiology, University of Texas Health Science Center in San Antonio; Clinical Assistant Professor of Radiology, University of Texas Medical Branch at Galveston; Member, Board of Directors, Austin Radiological Association; Consulting Staff, Seton Health Network, Columbia/St David's Healthcare System, Healthsouth Rehabilitation Hospital of Austin, Georgetown Hospital, St Mark's Medical Center, Cedar Park Regional Medical Center
Lori Lee Barr, MD, FACR, FAIUM is a member of the following medical societies: American Association for Women Radiologists, American College of Radiology, American Institute of Ultrasound in Medicine, American Roentgen Ray Society, American Society of Pediatric Neuroradiology, Association of University Radiologists, Radiological Society of North America, Society for Pediatric Radiology, Society of Radiologists in Ultrasound, Southern Medical Association, Texas Radiological Society, and Undersea and Hyperbaric Medical Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Bernard D Coombs, MB, ChB, PhD, Consulting Staff, Department of Specialist Rehabilitation Services, Hutt Valley District Health Board, New Zealand
Disclosure: Nothing to disclose.

CME Editor

Robert M Krasny, MD, Consulting Staff, Department of Radiology, Resolution Imaging Medical Corporation
Robert M Krasny, MD is a member of the following medical societies: American Roentgen Ray Society and Radiological Society of North America
Disclosure: Nothing to disclose.

Chief Editor

Felix S Chew, MD, MBA, EdM, Professor, Department of Radiology, Vice Chairman for Radiology Informatics, Section Head of Musculoskeletal Radiology, University of Washington
Felix S Chew, MD, MBA, EdM is a member of the following medical societies: American Roentgen Ray Society, Association of University Radiologists, and Radiological Society of North America
Disclosure: Nothing to disclose.

 
 
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