Coffin-Lowry syndrome

MONDO:0010561

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, COFFIN-Lowry syndrome, Coffin syndrome, Coffin syndrome 1, dwarfism, lean spastic type

28 clinical trials for this condition and its sub-types.

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