Rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare condition whose etiology is currently unknown. ROHHAD mainly affects the endocrine system and autonomic nervous system, but patients can exhibit a variety of signs. Patients present with both alveolar hypoventilation along with hypothalamic dysfunction, which distinguishes ROHHAD from congenital central hypoventilation syndrome (CCHS). ROHHAD is a rare disease, with only 100 reported cases worldwide thus far.
Rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare condition whose etiology is currently unknown. ROHHAD mainly affects the endocrine system and autonomic nervous system, but patients can exhibit a variety of signs. Patients present with both alveolar hypoventilation along with hypothalamic dysfunction, which distinguishes ROHHAD from congenital central hypoventilation syndrome (CCHS). ROHHAD is a rare disease, with only 100 reported cases worldwide thus far.
The first sign of ROHHAD is a rapid weight gain between 1.5 and 11 years of age. Typically, hypoventilation, or abnormally slow breathing, presents after the rapid onset obesity. Symptoms of hypothalamic dysfunction and autonomic dysfunction present in a variety of ways, but in order for a diagnosis of ROHHAD to be made, they must be present in some form. Approximately 40% of patients will develop neuroendocrine tumors. There is also a possibility of behavioral disorders, but some children with ROHHAD have normal cognitive development and intelligence.
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).