Ahdc1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome

A disorder characterized by recurrent episodic disruptions of breathing during sleep. It is caused by the intermittent relaxation of pharyngeal muscles leading to the narrowing or complete blockage of the upper airway. This results in compensatory arousal from sleep to breathe again. An anatomically narrow airway from body habitus or enlarged pharyngeal structures may also predispose to obstruction. Clinical presentation usually includes snoring, daytime sleepiness, difficulty concentrating and fatigue. Clinical course may progress to chronic hypoxemia with cardiovascular and cerebrovascular sequelae.

Disease Alternative Name

obstructive sleep apnea syndrome

Trending Cases