Hyperostosis Frontalis Interna

Hyperostosis Frontalis Interna

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Hyperostosis Frontalis Interna is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Endostosis Crani
  • Hyperostosis Calvariae Interna
  • Morgagni-Stewart-Morel Syndrome

Disorder Subdivisions

  • None

General Discussion

Hyperostosis Frontalis Interna is characterized by the thickening of the frontal bone of the skull. It is not clear that this disorder is actually rare. Some clinicians believe that it may be a common abnormality found in as many as 12 percent of the female population. The disorder may be found associated with a variety of conditions such as seizures, headaches, obesity, diabetes insipidus, excessive hair growth and sex gland disturbances. Increased serum alkaline phosphatase and elevated serum calcium may occur.

Symptoms

The major feature of Hyperostosis Frontalis Interna is excessive growth or thickening of the frontal bone of the head. This excess growth can only be seen in an x-ray. As a result, scientists feel that this condition may be much more prevalent than suspected, but often goes undetected. Many people have no apparent symptoms.



Other conditions that may be found in patients with this disorder are: obesity, a condition in which secondary male sexual traits are acquired by a female (virilization); a central nervous system disorder characterized by a sudden, aimless, uncontrollable discharge of electrical energy in the brain causing a convulsion or loss of consciousness (epilepsy); decreased vision; headaches; disturbances of the ovaries and testes (sex glands or gonads); excessive body hair; and/or diabetes. (For more information on these disorders, choose "Epilepsy" and/or "Diabetes" as your search terms in the Rare Disease Database).

Causes

Hyperostosis Frontalis Interna has been found in multiple generations suggesting that the disorder may be inherited as a dominant trait. It is not known if the disorder is autosomal dominant or X-linked. There are no known cases of male-to-male (father to son) transmission.



Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.



In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.

Affected Populations

Hyperostosis Frontalis Interna affects females 9 times more often than males. This disorder presents itself most often among the middle-aged and elderly but has also been found in adolescents.

Standard Therapies

There is no known treatment for Hyperostosis Frontalis Interna. Seizures and headaches can be treated with standard medications.



Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.



For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

TEXTBOOKS

Buyse ML. ed. Birth Defects Encyclopedia. Dover, MA; Blackwell Scientific Publications; for: Center for Birth Defects Information Services, Inc;1990:909-910.



REVIEW ARTICLE

Hershkovitz I, et al., Hyperostosis frontalis interna: an anthropological perspective. Am J Phys Anthropol. 1999;109:303-25



JOURNAL ARTICLES

Chaljub G, et al., Unusually exuberant hyperostosis frontalis interna: MRI. Neuroradiology. 1999;41:44-45.



Ross AH, et al., Cranial thickness in American females and males. J Forensic Sci. 1998;43:267-72.



Torres MA, et al., Leukocyte-marrow scintigraphy in hyperostosis frontalis interna. J Nucl Med. 1997;38:1283-85.



Akashi T. [MRI findings of hyperostosis frontalis interna--a case of Morgagni syndrome]. No To Shinkei. 1996;48:667-70. Japanese.



FROM THE INTERNET

McKusick, VA. ed. On-line Mendelian Inheritance in Man (OMOM); Entry: 144800, Hyperostosis Frontalis Interna. Creation Date: 6/4/1986. Most recent update: 9/24/94.

Resources

Children's Craniofacial Association

13140 Coit Road

Suite 517

Dallas, TX 75240

USA

Tel: (214)570-9099

Fax: (214)570-8811

Tel: (800)535-3643

Email: contactCCA@ccakids.com

Internet: http://www.ccakids.com



FACES: The National Craniofacial Association

PO Box 11082

Chattanooga, TN 37401

Tel: (423)266-1632

Fax: (423)267-3124

Tel: (800)332-2373

Email: faces@faces-cranio.org

Internet: http://www.faces-cranio.org



NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse

One AMS Circle

Bethesda, MD 20892-3675

USA

Tel: (301)495-4484

Fax: (301)718-6366

Tel: (877)226-4267

TDD: (301)565-2966

Email: NIAMSinfo@mail.nih.gov

Internet: http://www.niams.nih.gov/



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

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