Coffin-Lowry Syndrome

Coffin-Lowry Syndrome is an X-linked dominantly inherited disorder caused by mutations in the RPS6KA3 gene. Male patients usually have severe intellectual disabilities while female intellectual disabilities are more variable, from non-existant to profound. Most affected individuals have distinctive facial and hand characteristics. Other symptoms include microcephaly, spinal curvature, skeletal abnormalities, and stimulus-induced drop episodes (SIDEs) (affected individuals remain conscious but collapse briefly when startled or are unexpectedly excited).

General information links for Coffin-Lowry Syndrome: