eMedicine Specialties > Orthopedic Surgery > Pediatrics

Spondyloepiphyseal Dysplasia: Follow-up

Author: Shital Parikh, MD, Assistant Professor, Department of Pediatric Orthopaedic Surgery, Cincinnati Children's Hospital Medical Center
Coauthor(s): Alvin H Crawford, MD, FACS, Professor of Pediatrics and Orthopedic Surgery, University of Cincinnati College of Medicine; Director, Division of Pediatric Orthopedic Surgery, Department of Orthopedic Surgery, Cincinnati Children's Hospital Medical Center; Preeti Batra, MBBS, MD, Staff Physician, Department of Radiology, VS Hospital, India
Contributor Information and Disclosures

Updated: Mar 4, 2008

Follow-up

Complications

  • Common conditions associated with SED include the following:
    • Neck instability
    • Spinal deformities such as scoliosis, kyphosis, or lordosis
    • Ocular abnormalities such as myopia or retinal detachment
    • Hearing deficits
    • Hip deformities including coxa vara, capital femoral epiphyseal involvement
    • Genu valgum
    • Equinovarus foot
    • Degenerative joint disease of the hips, knees, or shoulders

Prognosis

  • SED is nonlethal, and life expectancy is not reduced. However, morbidity is increased, and regular monitoring and follow-up care should be encouraged.
  • Patients with SED live as long as people without SED. They can have families and are able to contribute to society. They should be encouraged to live a productive and active life.

Patient Education

  • A clinical geneticist may be of help to provide counseling to the family. The proper establishment of the mode of inheritance aids in genetic counseling.
  • Patients with neck instability should be advised regarding activity restrictions (see Activity).

Miscellaneous

Medicolegal Pitfalls

  • Orthopedic and other surgical procedures are indicated in patients with SED. Although these can be performed safely in most patients, specific structural and physiologic abnormalities should be carefully considered, especially by the anesthesia team.

Special Concerns

  • Dwarfism resource sites include LPA Online and Dwarfism.org. These comprehensive sites provide information on various organizations, specialized equipment, and tips on activities of daily living.
 


More on Spondyloepiphyseal Dysplasia

Overview: Spondyloepiphyseal Dysplasia
Differential Diagnoses & Workup: Spondyloepiphyseal Dysplasia
Treatment & Medication: Spondyloepiphyseal Dysplasia
Follow-up: Spondyloepiphyseal Dysplasia
Multimedia: Spondyloepiphyseal Dysplasia
References
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References

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Further Reading

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Keywords

spondyloepiphyseal dysplasia congenita, SED congenita, SEDC, Spranger-Wiedemann, spondyloepiphyseal dysplasia tarda, SED tarda, SED tardive, X-linked SED, spondyloepiphyseal dysplasia late, SEDL, SED Maroteaux type, SED tarda Toledo, SED with brachydactyly, SED tarda Namaqualand type, NSED, pseudo-Morquio disease, pseudoachondroplasia SED, short stature, dwarfism, skeletal dysplasia, myopia, near-sighted, retinal detachment, detached retina, deafness, deaf, scoliosis, kyphosis, lordosis

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Contributor Information and Disclosures

Author

Shital Parikh, MD, Assistant Professor, Department of Pediatric Orthopaedic Surgery, Cincinnati Children's Hospital Medical Center
Shital Parikh, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Medical Association, and Orthopaedic Research Society
Disclosure: Nothing to disclose.

Coauthor(s)

Alvin H Crawford, MD, FACS, Professor of Pediatrics and Orthopedic Surgery, University of Cincinnati College of Medicine; Director, Division of Pediatric Orthopedic Surgery, Department of Orthopedic Surgery, Cincinnati Children's Hospital Medical Center
Alvin H Crawford, MD, FACS is a member of the following medical societies: Ohio State Medical Association and Scoliosis Research Society
Disclosure: Nothing to disclose.

Preeti Batra, MBBS, MD, Staff Physician, Department of Radiology, VS Hospital, India
Disclosure: Nothing to disclose.

Medical Editor

Charles T Mehlman, DO, MPH, Director, Musculoskeletal Outcomes Research, Associate Professor, Division of Pediatric Orthopedic Surgery, Cincinnati Children's Hospital Medical Center
Charles T Mehlman, DO, MPH is a member of the following medical societies: American Academy of Pediatrics, American Fracture Association, American Medical Association, American Orthopaedic Foot and Ankle Society, American Osteopathic Association, Arthroscopy Association of North America, North American Spine Society, Ohio State Medical Association, Pediatric Orthopaedic Society of North America, and Scoliosis Research Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: eMedicine Salary Employment

Managing Editor

George H Thompson, MD, Director, Pediatric Orthopedics, Rainbow Babies and Children's Hospital
George H Thompson, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Orthopaedic Association, Pediatric Orthopaedic Society of North America, and Scoliosis Research Society
Disclosure: Nothing to disclose.

CME Editor

Dinesh Patel, MD, FACS, Associate Clinical Professor of Orthopedic Surgery, Harvard Medical School; Chief of Arthroscopic Surgery, Department of Orthopedic Surgery, Massachusetts General Hospital
Dinesh Patel, MD, FACS is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Association of Physicians of Indian Origin, American College of International Physicians, and American College of Surgeons
Disclosure: Nothing to disclose.

Chief Editor

Dennis P Grogan, MD, Clinical Professor, Department of Orthopedic Surgery, University of South Florida College of Medicine; Chief of Staff, Department of Orthopedic Surgery, Shriners Hospital for Children of Tampa
Dennis P Grogan, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Medical Association, American Orthopaedic Association, American Orthopaedic Foot and Ankle Society, Eastern Orthopaedic Association, Irish American Orthopaedic Society, Pediatric Orthopaedic Society of North America, and Scoliosis Research Society
Disclosure: Nothing to disclose.

 
 
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