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Progressive Osseous Heteroplasia (POH)

Abstract

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NORD is very grateful to Frederick S. Kaplan, MD, Isaac & Rose Nassau Professor of Orthopaedic Molecular Medicine; Chief, Division of Orthopaedic Molecular Medicine and Director, Center for Research in FOP & Related Disorders, The Perelman School of Medicine at The University of Pennsylvania and Eileen M. Shore, PhD, Professor of Orthopaedic Molecular Medicine and Genetics, and Co-Director, Center for Research in FOP & Related Disorders, The Perelman School of Medicine at The University of Pennsylvania for assistance in the preparation of this report.

Synonyms of Progressive Osseous Heteroplasia (POH)

Disorder Subdivisions

No subdivisions found.

General Discussion

Progressive osseous heteroplasia (POH) is an extremely rare disorder characterized by abnormal development of bone in areas of the body where bone is not normally present (heterotopic ossification). The disorder first appears as areas of patchy bone formation (ossification) in the skin during infancy; heterotopic ossification progresses to involve superficial and deep connective tissues, areas of fat beneath the skin (subcutaneous fat), muscles, tendons, ligaments, and the sheets of fibrous tissue that envelop muscle (fascia). This abnormal formation of bone may restrict the movement of affected joints and/or hinder the growth of affected limbs. The course of the disease is unpredictable; some areas of the body may become severely affected while others may remain unaffected.

Organizations related to Progressive Osseous Heteroplasia (POH)

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