Rare Medical News

Disease Profile

ROHHAD

Prevalence
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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Childhood

ageofonset-childhood.svg

ICD-10

-

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

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

no.svg

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.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

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.

no.svg

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.

no.svg

Not applicable

no.svg

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 syndrome that affects the autonomic nervous system (which controls involuntary actions like breathing and your heartbeat) and the endocrine system. As the name suggests, the key features include dramatic weight gain over a sixto 12-month period in the first 10 years of life, followed by hypothalamic dysfunction, dysregulation of the autonomic nervous system, and alveolar hypoventilation.[1][2] Children with ROHHAD appear to have normal growth, development, and general health prior to onset of symptoms.[3] The cause of ROHHAD is currently unknown.[1][2] Treatment varies based on the signs and symptoms present in each person.[2][4]

Symptoms

The signs and symptoms of ROHHAD and the severity of the condition vary from person to person. Most children with ROHHAD 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. Children with ROHHAD are also at an increased risk for certain types of tumors including ganglioneuromas and ganglioneuroblastomas.[1][2]

Cause

The exact 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.[1][5]

Diagnosis

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 made.[2][6]

Treatment

There is currently no cure for ROHHAD. Treatment varies based on the signs and symptoms present in each person. Because ROHHAD can affect many parts of the body, children with ROHHAD are often cared for by a team of healthcare providers who specialize in a variety of 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.
  • 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 cardiologists, gastroenterologists (doctors who specialize in the diagnosis and treatment of gastrointestinal conditions), neurologists, nurses, social workers, speech and language therapists, and special education teachers.[2]

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 hypogonadotropic hypogonadism 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

      Organizations Providing General Support

        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

            1. 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/.
            2. 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/.
            3. 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.
            4. 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.
            5. 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.
            6. 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/.
            7. 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/.
            8. 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/.

            Rare Medical News