ROHHAD syndrome
Pronunciation: ROH-had
Also written as: ROHHAD — Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation, and Autonomic Dysregulation
Rare disorder characterized by rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation.
Full Definition
ROHHAD (Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation, and Autonomic Dysregulation) syndrome is a rare, life-threatening disorder typically presenting in previously healthy children between ages 2-7 years. The syndrome is characterized by rapid weight gain, hypothalamic dysfunction affecting temperature regulation and sleep-wake cycles, central hypoventilation requiring mechanical ventilation support, and autonomic nervous system abnormalities. Some patients develop neural crest tumors (ROHHAD-NET). The etiology remains unknown, and there is no specific treatment beyond supportive care including ventilatory support and management of metabolic complications.
Usage
Usage note: Always expand acronym on first use; specify NET variant if neural crest tumors present.
In Context
- "The patient's rapid weight gain and central hypoventilation raised concern for ROHHAD syndrome." — Clinical assessment
- "ROHHAD syndrome was confirmed after excluding other causes of rapid-onset obesity and hypoventilation." — Diagnostic workup