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Disease Profile
ROHHAD
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
Childhood
ICD-10
-
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation
Summary
ROHHAD is an acronym for rapid-onset obesity (RO) with hypothalamic dysregulation (H), hypoventilation (H), and autonomic dysregulation (AD). It is a rare, life-threatening
Symptoms
- Dramatic weight gain over a sixto twelve-month period
- Hypothalamic dysfunction such as inability to maintain normal water balance in the body; hypothyroidism; early or late puberty; growth hormone deficiency; and/or high prolactin levels
- Dysregulation of the autonomic nervous system such as inability to regulate body temperature, slow heartbeat, excessive sweating, altered pupil response to light,
strabismus (crossed eyes), and/or intestinal abnormalities - Alveolar hypoventilation with very shallow breathing during sleep
Mild to severe behavioral problems may also be present. Children with ROHHAD are also at an increased risk for certain types of
Diagnosis
- Rapid-onset obesity and alveolar hypoventilation during sleep starting after the age of one and a half years
- Signs and symptoms of hypothalamic dysfunction
- Exclusion of other condition that cause similar features, such as congenital central hypoventilation syndrome
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 made.[2][6]
Treatment
- Children may be referred to nutrition services to help prevent additional weight gain.
- Hypothalamic dysfunction is often managed by an
endocrinologist who may recommendhormone replacement therapy (such as growth hormone), a strict fluid intake regimen, and/or other measures. - 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, children with ROHHAD may also be screened periodically for these tumors.
Other healthcare providers who may help with the care of a child with ROHHAD include
Management Guidelines
- Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Follitropin alfa, recombinant(Brand name: Gonal-f) Manufactured by EMD Serono, Inc.
FDA-approved indication: For the induction of spermatogenesis in men with primary and secondary hypogonadotropichypogonadism in whom the cause of infertility is not due to primary testicular failure.
National Library of Medicine Drug Information Portal - Gonadorelin acetate(Brand name: Lutrepulse) Manufactured by Ferring Laboratories, Inc.
FDA-approved indication: For induction of ovulation in women with hypothalamic amenorrhea due to a deficiency or absence in the quantity or pulse pattern of endogenous GnRH secretion.
National Library of Medicine Drug Information Portal
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
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American Autonomic Society
18915 Inca Ave
Lakeville, MN 55044
Telephone: 952-469-5837
E-mail: https://americanautonomicsociety.org/contact/
Website: https://americanautonomicsociety.org/ -
Dysautonomia International
P.O. Box 596
East Moriches, NY 11940
E-mail: [email protected]
Website: https://www.dysautonomiainternational.org/ -
European Federation of Autonomic Nervous System Societies
Via Ugo Foscolo, 7
Bologna, 40123 Italy
Telephone: +390512092929
Website: https://www.efasweb.com/efas/ -
ROHHAD Association
11A Lomond Crescent
Alexandria, G83 0RJ Scotland
Telephone: 44 7917-225-276
E-mail: [email protected]
Website: https://www.rohhadassociation.com/ -
ROHHAD Fight Inc.
3 Surrey Lane
Hempstead, NY 11550
Telephone: (516) 642-1177
Fax: (516) 483-0566
E-mail: [email protected]
Website: https://www.rohhadfight.org/
Organizations Providing General Support
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American Cancer Society
250 Williams Street NW
Atlanta, GA 30329
Toll-free: 1-800-227-2345
Website: https://www.cancer.org
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- Lurie Children's Hospital has developed an information page on ROHHAD. Click on the link to access the information.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- PubMed is a searchable database of medical literature and lists journal articles that discuss ROHHAD. Click on the link to view a sample search on this topic.
References
- Weese-Mayer DE, Marazita ML, Rand CM & Berry-Kravis EM. Congenital Central Hypoventilation Syndrome. GeneReviews. January 2014; https://www.ncbi.nlm.nih.gov/books/NBK1427/.
- Ize-LudlowD, Vitez SF, Casey M. Rand CM, Weese-Mayer DE. Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation. NORD. August 2013; https://rarediseases.org/rare-diseases/rapid-onset-obesity-with-hypothalamic-dysfunction-hypoventilation-and-autonomic-dysregulation/.
- Patwari PP, Wolfe LF. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: review and update. Curr Opin Pediatr. August, 2014; 26(4):487-492. https://www.ncbi.nlm.nih.gov/pubmed/24914877.
- 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; 120(1):e179-88. https://www.ncbi.nlm.nih.gov/pubmed/17606542.
- 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. https://www.ncbi.nlm.nih.gov/pubmed/21691246.
- 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. March 2011; 2011:1-6. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3062047/.
- Aljabban L, Kassab L, Bakoura NA, Alsalka MF, Maksoud I. Rapid-onset obesity, hypoventilation, hypothalamic dysfunction, autonomic dysregulation and neuroendocrine tumor syndrome with a homogenous enlargement of the pituitary gland: a case report. J Med Case Rep. November, 2016; 10(1):328. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5120475/.
- 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. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3749899/.
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