National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Pseudohypoparathyroidism is not the name you expected.
Pseudohypoparathyroidism is a hereditary disorder characterized by an inadequate response to the parathyroid hormone, although the hormone is present in normal amounts. This inadequate response affects bone growth in individuals with Pseudohypoparathyroidism. Affected individuals may also experience headaches, unusual sensations, weakness, easy fatigue, lack of energy, blurred vision, and/or abnormal sensitivity (hypersensitivity) to light. Additional symptoms and findings may include stiffness or cramps in the arms and/or legs, palpitations, and/or abdominal pain. In addition, individuals with Pseudohypoparathyroidism may have an abnormally round face, thick short stature, unusually short fourth fingers, and mental retardation. Hormonal and calcium replacement therapy is often helpful, but the lack of growth may persist.
Genetic and Rare Diseases (GARD) Information Center
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Hormone Health Network Endocrine Society
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NIH/National Institute of Diabetes, Digestive & Kidney Diseases
- Office of Communications & Public Liaison
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- Bethesda, MD 20892-2560
- Tel: (301)496-3583
- Email: NDDIC@info.niddk.nih.gov
- Website: http://www2.niddk.nih.gov/
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Last Updated: 7/23/2007
Copyright 2007 National Organization for Rare Disorders, Inc.
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