Coffin-Lowry syndrome (Q94144): Difference between revisions
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Revision as of 09:15, 16 August 2026
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.
| Language | Label | Description | Also known as |
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| default for all languages | ID_380089065 |
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| English | Coffin-Lowry syndrome |
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. |
