You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.
NORD is very grateful to Frederick Singer, MD, Director, Endocrine/Bone Disease Program, John Wayne Cancer Institute, for assistance in the preparation of this report.
Synonyms of Fibrous Dysplasia
- fibrous dysplasia of bone
- Jaffe-Lichtenstein disease
- monostotic fibrous dysplasia
- polyostotic fibrous dysplasia
Fibrous dysplasia (FD) is a rare bone disorder. Bone affected by this disorder is replaced by abnormal scar-like (fibrous) connective tissue. This abnormal fibrous tissue weakens the bone, making it abnormally fragile and prone to fracture. Pain may occur in the affected areas. As children grow, affected bone may become misshapen (dysplastic). FD may only affect one solitary bone (monostotic disease) or the disorder can be widespread, affecting multiple bones throughout the body (polyostotic disease). The severity of the disorder can vary greatly from one person to another. Any part of the skeleton can be affected, but the long bones of the legs, the bones of the face and skull (craniofacial area), and the ribs are most often affected. FD is usually diagnosed in children or young adults, but mild cases may go undiagnosed until adulthood. In some cases, FD may not require treatment; in other cases, certain medications and surgical procedures may be recommended.
FD was first described in the medical literature in 1938 by Dr. Lichtenstein and in 1942 by Drs. Lichtenstein and Jaffe. Fibrous dysplasia can occur as part of a larger disorder such as McCune-Albright syndrome (fibrous dysplasia-café au lait spots-endocrine dysfunction) or Mazabraud syndrome (fibrous dysplasia-myxomas). The term Jaffe-Lichtenstein syndrome is sometimes used synonymously with monostotic FD or to denote cases of polyostotic FD with café au lait spots, but no endocrine dysfunction. These disorders most likely represent a spectrum of disease associated with activating mutations of the GNAS1 gene.
Fibrous Dysplasia Resources
NORD Member Organizations:
(To become a member of NORD, an organization must meet established criteria and be approved by the NORD Board of Directors. If you're interested in becoming a member, please contact Susan Olivo, Membership Manager, at email@example.com.)
The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.
The National Organization for Rare Disorders (NORD) web site, its databases, and the contents thereof are copyrighted by NORD. No part of the NORD web site, databases, or the contents may be copied in any way, including but not limited to the following: electronically downloading, storing in a retrieval system, or redistributing for any commercial purposes without the express written permission of NORD. Permission is hereby granted to print one hard copy of the information on an individual disease for your personal use, provided that such content is in no way modified, and the credit for the source (NORD) and NORD’s copyright notice are included on the printed copy. Any other electronic reproduction or other printed versions is strictly prohibited.
Copyright 1991, 1996, 1998, 1999, 2002, 2014
NORD's Rare Disease Information Database is copyrighted and may not be published without the written consent of NORD.