Autozomálně dominantní
Reduced automatic breathing drive, most pronounced during sleep, usually caused by PHOX2B variants and sometimes accompanied by Hirschsprung disease or, with certain variants, a risk of neural crest tumours such as neuroblastoma.
Co se diagnózou změní
Knowing allows sleep studies with carbon dioxide monitoring, breathing support where needed, extra caution with anaesthesia and sedative medicines, and testing of parents and children.
Analyzované geny
Zahrnuje 3 příbuzných podtypů ↓Skrýt podtypy ↑
- central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
- central hypoventilation syndrome, congenital, 2, and autonomic dysfunction
- central hypoventilation syndrome, congenital, 3
