/Pitt-Hopkins syndrome

Pitt-Hopkins syndrome

Rare Disease

MONDO:0012589

Also Known As

Pitt-Hopkins syndromePTHSPitt Hopkins syndromeencephalopathy, Severe epileptic, with autonomic dysfunctionintellectual disability, Syndromal, with intermittent hyperventilationintellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apneamental retardation, Syndromal, with intermittent hyperventilation

Definition

Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.