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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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What are the signs and symptoms of rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD)?

The signs and symptoms of ROHHAD can vary from person to person, but usually include: hyperphagia and obesity, alveolar hypoventilation (reduced lung function), altered respiratory control, thermal dysregulation (the body's inability to regulate its temperature), water imbalance, pain hyposensitivity (decreased sensitivity to pain), behavioral disorders, strabismus, pupillary anomalies, hyperprolactinemia, altered onset of puberty, and tumors of neural crest origin.[1]

A remarkable feature of the patients affected by ROHHAD is the apparent normality of their first 2 to 4 years of life, with sudden onset of hypothalamic dysfunction, typically with the onset of rapid weight gain and obesity early in life, followed by autonomic dysregulation (impairment of the autonomic nervous system) and later hypoventilation. There is wide variation in the reported age at onset of autonomic dysfunction, as well as in the interval between the onset of hypothalamic dysfunction and hypoventilation. If it is not identified or is treated inadequately, the developing alveolar hypoventilation can be fatal, resulting in cardiorespiratory arrest.[2][1]
Last updated: 11/28/2011

  1. 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; Accessed 11/28/2011.
  2. 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; Accessed 11/28/2011.