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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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Your Question

My child has been diagnosed with rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD). What can you tell me about this conditon? All the information I have located is written by parents of children who have ROHHAD.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD)?

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

What is the difference between ROHHAD and ROHHADNET?

ROHHAD and ROHHADNET are two terms which have been suggested for the same syndrome. The acronym ROHHAD (rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation) was suggested by Ize-Ludlow et al in 2007 for the condition once known as late-onset central hypoventilation syndrome with hypothalamic dysfunction (LO-CHS/HD) to improve and expedite patient identification and treatment.[2] The acronym ROHHADNET (rapid-obesity, hyppoventilation, hypothalamic, autonomic dysfunctions, and neural tumors) was suggested by Bougneres et al in 2008 to bring attention to the possibility of neural crest tumors, such as ganglioneuromas, in individuals identified with ROHHAD.[1] Some argue that since obesity, hypoventilation, and cardiac arrest typically present long before a child develops a neural crest tumor, changing the name to include this aspect of the disease might result in delayed awareness and diagnosis of ROHHAD, which could be potentially fatal.[2]  
Last updated: 11/28/2011

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.[2]

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.[1][2]
Last updated: 11/28/2011

What causes rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD)?

The exact cause of ROHHAD is unknown at this time. Several genes, namely the PHOX2B gene, the BDNF gene, and the TRKB gene (also called the NTRK2 gene), have been ruled out after consideration based on overlapping symptoms seen with ROHHAD, congenital central hypoventilation syndrome (CCHS), and preliminary animal studies.[2]
Last updated: 11/28/2011

How might rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD) be treated?

There is no cure or standard treatment for ROHHAD at this time. Nonetheless, early diagnosis and appropriate management can help to decrease morbidity and mortality. Because of the spectrum of organ systems which may be affected in ROHHAD, symptoms may first be noticed by a pediatrician, an endocrinologist, pulmonologist, oncologist, or other pediatric subspecialist. If an affected individual is found to have rapid-onset obesity after 2 years of age, the autonomic nervous system is usually monitored for symptoms of dysregulation. If autonomic dysregulation is confirmed, the person is usually referred for comprehensive respiratory, physiologic, and endocrinologic testing. Pulmonary physicians treating those with clinical features consistent with ROHHAD are encouraged to be aggressive in their assessments, with comprehensive studies conducted during wakefulness and sleep. The child should be monitored at regular intervals to ensure optimal oxygenation and ventilation are achieved.[2] 

In addition, MRI or CT screening of the chest and abdomen for neural crest tumors should be part of the ongoing care of individuals with ROHHAD.[1][2]   
Last updated: 11/28/2011

Where can I learn more about rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD)?

For additional information resources on ROHHAD, you can click on the More Detailed Information tab above.
Last updated: 11/28/2011

References
  • 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.
  • 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.