Coffin-Lowry syndrome
Coffin-Lowry syndrome
Definition
A rare X-linked syndromic intellectual disability characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Intellectual disability ranges from mild to severe.
Also known as CLS, Coffin Lowry Syndrome, Coffin-Lowry syndrome, Coffin-Lowry syndrome, X-linked dominant — per MONDO