Coffin-Lowry syndrome

Coffin-Lowry syndrome /kof′in lou′rē/ [Grange S. Coffin, American pediatrician, b. 1923; R. Brian Lowry, Irish-born Canadian physician, 20th century] , a rare genetic disorder with onset in the postnatal period characterized by many parts of the body. Signs and symptoms are more severe in males than in females, and features can range from severe to very mild in women. Males typically have severe to profound intellectual disability and delayed development. Some experience stimulus-induced drop episodes (SIDEs) when startled with a loud noise. Characteristic facial features may include a prominent forehead, widely spaced and downward-slanting eyes, a short nose with a wide tip, and a wide mouth with full lips. It is transmitted with X-linked intermediate inheritance.