Lesch-Nyhan's syndrome
| Lesch-Nyhan syndrome | |
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| Philip Baker, an adult with Lesch-Nyhan Syndrome. Visible in this picture are the restraints on Philip's chair that he must use to control his involuntary movement. | |
| ICD-10 | E79.1 |
| ICD-9 | 277.2 |
| OMIM | 308000 300322 |
| DiseasesDB | 7415 |
| MedlinePlus | 001655 |
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Lesch-Nyhan syndrome Microchapters |
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Diagnosis |
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Treatment |
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Lesch-Nyhan's syndrome On the Web |
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American Roentgen Ray Society Images of Lesch-Nyhan's syndrome |
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Risk calculators and risk factors for Lesch-Nyhan's syndrome |
For patient information click here
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]
Synonyms and keywords: Hypoxanthine-guanine phosphoribosyltranferase deficiency; HGPRT-1 deficiency; HGPRT deficiency; Nyhan's syndrome; LNS
Overview
Historical Perspective
Pathophysiology
Epidemiology and Demographics
Screening
Differentiating Lesch-Nyhan syndrome from other diseases
Natural History, Complications and Prognosis
Diagnosis
- History | Physical Examination | Lab tests | Electrocardiogram | X ray | CT | MRI | Echocardiogram or Ultrasound | Other Imaging Findings | Other Diagnostic Studies
Treatment
References
External links
- CLIMB (Children Living with Inherited Metabolic Diseases)
- Lesch-Nyhan Syndrome Registry
- National Organization for Rare Disorders (NORD)
- National Institute of Child Health and Human Development (NICHD)
- Philip Baker's Homepage
- Lesch-Nyhan Syndrome. The Cleveland clinic. Retrieved on 2007-04-12.
- Lesch-Nyhan Syndrome. Joseph F. Smith medical library. Retrieved from the internet archive, April 03 2005 version on 2007-04-12.
Template:Endocrine, nutritional and metabolic pathology
da:Lesch-Nyhans syndrom de:Lesch-Nyhan-Syndrom it:Sindrome di Lesch-Nyhan