Hypophosphatasia Follow-up

Author: Horacio Plotkin, MD, FAAP; Chief Editor: Bruce Buehler, MD more...

Updated: May 6, 2010

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Complications
Prognosis
Patient Education
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Complications

Complications of the more severe forms of hypophosphatasia usually involve the respiratory system. Skeletal deformities can predispose an infant to respiratory compromise or pneumonia. In the infantile form, craniosynostosis can lead to increased intracranial pressure.

Prognosis

The perinatal form is considered lethal. The infantile form is believed to be fatal in approximately 50% of patients. Longevity studies have not been conducted for the infantile and childhood forms. Individuals with the adult and odontohypophosphatasic forms are believed to have normal lifespans.

Patient Education

Genetic counseling is important for all families who have affected children. A pedigree is essential, especially for the childhood, adult, or odontohypophosphatasic forms, which can have either autosomal dominant or recessive forms. Options for future pregnancies, such as prenatal testing for the perinatal form, should be discussed with parents.

Contributor Information and Disclosures

Author

Horacio Plotkin, MD, FAAP Adjunct Associate Professor of Pediatrics and Orthopedic Surgery, University of Nebraska School of Medicine

Horacio Plotkin, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics and American Society of Human Genetics

Disclosure: Genzyme Corporation Salary Management position

Coauthor(s)

George A Anadiotis, DO Consulting Staff, Division of Clinical and Biochemical Genetics, Department of Pediatric Rehabilitation and Development, Emmanuel Children's Hospital

George A Anadiotis, DO is a member of the following medical societies: American Medical Association and American Society of Human Genetics

Disclosure: Nothing to disclose.

Specialty Editor Board

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.

Mary L Windle, PharmD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine

Disclosure: Nothing to disclose.

Leonard G Feld, MD, PhD, MMM, FAAP Sara H Bissell and Howard C Bissell Endowed Chair in Pediatrics, Chief Medical Officer, Levine Children's Hospital, Carolinas Medical Center

Leonard G Feld, MD, PhD, MMM, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Physician Executives, American Society of Nephrology, American Society of Pediatric Nephrology, International Society of Nephrology, and Juvenile Diabetes Foundation International

Disclosure: Nothing to disclose.

Daniel Rauch, MD, FAAP Director, Pediatric Hospitalist Program, Associate Professor, Department of Pediatrics, New York University School of Medicine

Daniel Rauch, MD, FAAP is a member of the following medical societies: Ambulatory Pediatric Association, American Academy of Pediatrics, and Society of Hospital Medicine

Disclosure: Baxter Honoraria Consulting

Chief Editor

Bruce Buehler, MD Professor, Department of Pediatrics and Genetics, Director RSA, 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.

References

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[Guideline] Jenny C. Evaluating infants and young children with multiple fractures. Pediatrics. Sep 2006;118(3):1299-303. [Medline].
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Whyte MP. The metabolic & molecular bases of inherited disease. In: Hypophosphatasia. 8^th ed. 2001:5313-29.
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