Autoszomális domináns
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.
Mit változtat a diagnózis
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.
Vizsgált gének
3 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
- central hypoventilation syndrome, congenital, 2, and autonomic dysfunction
- central hypoventilation syndrome, congenital, 3
