Catalog

Coffin-Lowry syndrome

No MMS code

Link to WHO Definition

Coffin-Lowry syndrome – http://id.who.int/icd/entity/380089065

Coffin-Lowry syndrome is a rare genetic neurological disorder characterised by psychomotor and growth retardation, facial dysmorphism (usually apparent only by the 2nd year with progressive coarsening), digit abnormalities (characteristic broad, tapering fingers), and progressive skeletal changes. Male patients are generally moderately to severely affected while female carriers have mild features.