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Diseases

Genetic and Rare Diseases Information Center (GARD)

Other Names for this Disease
  • Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation
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Overview


Rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD) is a newly described syndrome that can cause cardiorespiratory arrests and death.[1] As the name suggests, the most characteristic features include rapid-onset obesity in the first 10 years of life, followed by hypothalamic dysfunction, and then onset of symptoms of autonomic dysregulation (impairment of the autonomic nervous system) with later onset of alveolar hypoventilation (reduced lung function). The cause of this syndrome, once known as late-onset central hypoventilation syndrome with hypothalamic dysfunction (LO-CHS/HD), is unknown. Although there is no cure for this condition at this time, early diagnosis and proper management may help to avoid catastrophic consequences.[2]  
Last updated: 11/28/2011

References

  1. Bougneres P, Pantalone L, Linglart A, Rothenbuhler A, Le Stunff C. Endocrine manifestations of the rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation and neural tumor (ROHHADNET) syndrome in early childhood. J Clin Endocrinol Metab. October 2008; http://jcem.endojournals.org/cgi/rapidpdf/jc.2008-0238v1.pdf. Accessed 11/28/2011.
  2. Ize-Ludlow D, Gray JA, Sperling MA, Berry-Kravis EM, Milunsky JM, Farooqi IS, Rand CM, Weese-Mayer DE. Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Presenting in Childhood. Pediatrics. July 2007; http://pediatrics.aappublications.org/cgi/content/full/120/1/e179. Accessed 11/28/2011.
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Basic Information

In Depth Information

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Selected Full-Text Journal Articles