coffin-lowry syndrome

Coffin-Lowry syndrome is a malformation syndrome caused by a mutation. The patients’ mutation-defective RSK2 kinase loses its phosphotransferase activity and is responsible for the multiple malformations. Treatment of patients with the syndrome is purely symptomatic. What is Coffin-Lowry syndrome? Malformation syndromes are recurrent combinations of various malformations that are present from birth and affect multiple … Coffin-Lowry Syndrome: Causes, Symptoms & Treatment