Preferred Label : Coffin-Lowry syndrome;
ICD-11 definition : Coffin-Lowry syndrome is a rare genetic neurological disorder characterized 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.;
Origin ID : 380089065;
Currated CISMeF NLP mapping
Coffin-Lowry syndrome is a rare genetic neurological disorder characterized 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.
