Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
MONDO:0017408A very rare disorder that appears after the first year and a half of life in previously healthy children. It is characterized by rapid-onset weight gain, hypothalamic dysfunction, breathing abnormalities, and autonomic system dysregulation. The hypothalamic dysfunction manifestations include inability to maintain normal water balance, high prolactin levels, low thyroid, low cortisol, and early or late puberty. The breathing abnormalities include sleep apnea and alveolar hypoventilation, requiring ventilation support. The autonomic system dysregulation includes eye abnormalities, intestinal abnormalities, temperature dysregulation, and low heart rhythm. This disorder requires early recognition because it may lead to cardiorespiratory arrest. Up to 40% of the patients develop tumors of neural crest origin.
Also known as: ROHHAD, ROHHAD syndrome, ROHHADNET, Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation, rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome, rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumours syndrome, rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation, rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome
3 clinical trials for this condition and its sub-types.
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Can a global patient registry crack the code of the rare disease ROHHAD?
Knowledge-focused Recruiting nowResearchers are building the first international registry for ROHHAD, a rare condition marked by rapid weight gain, breathing problems, and autonomic nervous system issues. The study invites people with suspected or confirmed ROHHAD to fill out confidential surveys about their he…
Sponsor: Ilya Khaytin • Aim: Knowledge-focused
Last updated Sep 05, 2026 00:00 UTC
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Scientists probe rare syndrome behind rapid childhood obesity
Knowledge-focused Recruiting nowThis study looks at children with ROHHAD syndrome, a rare condition that causes rapid weight gain and breathing problems. Researchers will take blood samples to create special cells in the lab and study their genetic activity. The goal is to understand what goes wrong in the body…
Sponsor: Columbia University • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:55 UTC