Coffin-Lowry syndrome (Q94144): Difference between revisions
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Síndrome de Coffin-Lowry é um transtorno neurológico genético raro caracterizado por atraso psicomotor e de crescimento, dismorfismo facial (geralmente aparente apenas no segundo ano com fáscies progressivamente grosseira), anormalidades digitais (dedos largos e afilados característicos) e alterações esqueléticas progressivas. Pacientes do sexo masculino são geralmente afetados de forma moderada a grave, enquanto as portadoras do sexo feminino apresentam manifestações leves. | |||
| description / en | description / en | ||
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. | |||
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 |
|---|---|---|---|
| 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. |
