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Genetic and Rare Diseases Information Center (GARD)

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ROHHAD


Other Names for this Disease
  • Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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 ROHHAD?

ROHHAD is an acronym for rapid-onset obesity (RO) with hypothalamic dysregulation (H), hypoventilation (H), and autonomic dysregulation (AD). It is a rare syndrome that affects the autonomic nervous system (the part of the nervous system that controls involuntary actions) and the endocrine system. As the name suggests, the most characteristic features include dramatic weight gain over a six- to 12-month period in the first 10 years of life followed by hypothalamic dysfunction, dysregulation of the autonomic nervous system, and alveolar hypoventilation. The exact underlying cause of ROHHAD is currently unknown.[1][2] Treatment varies based on the signs and symptoms present in each person and the severity of the condition.[3][2]
Last updated: 1/9/2014

What are the signs and symptoms of ROHHAD?

The signs and symptoms of ROHHAD and the severity of the condition vary from person to person. Most affected children begin to develop symptoms in the first ten years of life, which often include:[1][2]
Mild to severe behavioral problems may also be present. Affected children are also at an increased risk for certain types of tumors including ganglioneuromas and ganglioneuroblastomas.[1][2]
Last updated: 1/8/2015

What causes ROHHAD?

The exact underlying cause of ROHHAD is currently unknown. However, scientists suspect that it may be a genetic condition.[2] A number of genes have been studied as a possible cause of the condition, but thus far, a disease-causing gene has not been identified.[4][1]
Last updated: 1/8/2015

Is ROHHAD inherited?

No inherited cause of ROHHAD has been identified. However, more than one family member can rarely be affected by the condition. This suggests that it may be inherited in some cases.[5]
Last updated: 1/8/2015

How is ROHHAD diagnosed?

A diagnosis of ROHHAD is typically made based on the presence of the following:[2]
It can take several months to years for other associated health problems to develop after the onset of rapid weight gain. This means that a child may need to be monitored over an extended period of time before a diagnosis of ROHHAD can be established.[2][5]
Last updated: 1/8/2015

What is the long-term outlook for people with ROHHAD?

The long-term outlook for people with ROHHAD varies. Children who are diagnosed early and appropriately managed can have a good quality of life.[2] However, if the diagnosis is delayed, the symptoms are not anticipated and/or the condition is not adequately treated, affected children are more likely to have significant behavior problems and are at an increased risk for sudden death.[6][2]
Last updated: 1/9/2015

How might ROHHAD be treated?

There is currently no cure for ROHHAD. Treatment varies based on the signs and symptoms present in each person and the severity of the condition. Because ROHHAD can affect many different parts of the body, children with the condition are often cared for by a team of healthcare providers who specialize in a variety of different medical fields. For example, children may be referred to nutrition services to help prevent additional weight gain. Hypothalamic dysfunction is often managed by an endocrinologist who may recommend hormone replacement therapy (such as growth hormone), a strict fluid intake regimen, and/or other measures based on the child's symptoms. Children with alveolar hypoventilation will be referred to a pulmonologist (a doctor who specializes in the diagnosis and treatment of lung conditions) and/or a respiratory therapist who can determine if and when ventilators are needed. Due to an increased risk for certain types of tumors including ganglioneuromas and ganglioneuroblastomas, affected children may also be screened periodically for these tumors. Other healthcare providers who may help with the care of a child affected by ROHHAD include cardiologists, gastroenterologists (a doctor who specializes in the diagnosis and treatment of gastrointestinal conditions), neurologists, nurses, social workers, speech and language therapists, and special education teachers.[2]

Last updated: 1/9/2014

References
  • Debra E Weese-Mayer, MD, Mary L Marazita, PhD, FACMG, Casey M Rand, BS, and Elizabeth M Berry-Kravis, MD, PhD. Congenital Central Hypoventilation Syndrome. GeneReviews. January 2014; http://www.ncbi.nlm.nih.gov/books/NBK1427/.
  • Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation. NORD. August 2013; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1216/viewAbstract.
  • 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.
  • Rand CM, Patwari PP, Rodikova EA, Zhou L, Berry-Kravis EM, Wilson RJ, Bech-Hansen T, Weese-Mayer DE. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: analysis of hypothalamic and autonomic candidate genes. Pediatr Res. October 2011; 70(4):375-378.
  • Chew HB, Ngu LH, Keng WT.. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD): a case with additional features and review of the literature.. BMJ Case Rep. 2011 Mar 1;2011. March 2011; 2011:1-6.
  • Weese-Mayer DE, Rand CM, Ize-Ludlow D. Commentary: Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): Remember Your ABCs (Airway, Breathing, Circulation). J Can Acad Child Adolesc Psychiatry. August 2013; 22(3):238-239.
Other Names for this Disease
  • Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.