/rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome

rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome

Rare Disease

MONDO:0017408

Also Known As

ROHHADROHHAD syndromeROHHADNETRapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulationrapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndromerapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumours syndromerapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulationrapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndromerapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation

Definition

A 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.