Congenital fibrosis of extraocular muscles (Q68908): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
Fibrose congênita dos músculos extraoculares (CFEOM) se refere a pelo menos sete síndromes estrabísmicas definidas: CFEOM1A, CFEOM1B, CFEOM2, CFEOM3A, CFEOM3B, CFEOM3C e síndrome de Tukel, caracterizadas por oftalmoplegia congênita não progressiva com ou sem ptose (pálpebra caída). Em geral, os indivíduos afetados têm limitações importantes do olhar vertical (usualmente do olhar para cima) e limitação variável do olhar horizontal. Indivíduos com CFEOM frequentemente compensam a oftalmoplegia mantendo posições de cabeça anormais quando em repouso e movimentam a cabeça mais que os olhos para acompanhar objetos. Indivíduos com CFEOM3A também podem ter incapacidade intelectual, incapacidade de socialização, fraqueza facial e/ou uma neuropatia periférica axonal progressiva (uma forma da doença de Charcot-Marie-Tooth). Indivíduos com síndrome de Tukel também têm oligodactilia pós-axial ou oligosindactilia nas mãos. | |||
| description / en | description / en | ||
Congenital fibrosis of the extraocular muscles (CFEOM) refers to at least seven genetically defined strabismus syndromes: CFEOM1A, CFEOM1B, CFEOM2, CFEOM3A, CFEOM3B, CFEOM3C, and Tukel syndrome, characterised by congenital non-progressive ophthalmoplegia with or without ptosis (droopy eyelids). In general, affected individuals have severe limitation of vertical gaze (usually upgaze) and variable limitation of horizontal gaze. Individuals with CFEOM frequently compensate for the ophthalmoplegia by maintaining abnormal head positions at rest and by moving their heads rather than their eyes to track objects. Individuals with CFEOM3A may also have intellectual disability, social disability, facial weakness, and/or a progressive axonal peripheral neuropathy (a form of Charcot-Marie-Tooth disease). Individuals with Tukel syndrome also have postaxial oligodactyly or oligosyndactyly of the hands. | |||
Revision as of 16:59, 14 August 2026
Congenital fibrosis of the extraocular muscles (CFEOM) refers to at least seven genetically defined strabismus syndromes: CFEOM1A, CFEOM1B, CFEOM2, CFEOM3A, CFEOM3B, CFEOM3C, and Tukel syndrome, characterised by congenital non-progressive ophthalmoplegia with or without ptosis (droopy eyelids). In general, affected individuals have severe limitation of vertical gaze (usually upgaze) and variable limitation of horizontal gaze. Individuals with CFEOM frequently compensate for the ophthalmoplegia by maintaining abnormal head positions at rest and by moving their heads rather than their eyes to track objects. Individuals with CFEOM3A may also have intellectual disability, social disability, facial weakness, and/or a progressive axonal peripheral neuropathy (a form of Charcot-Marie-Tooth disease). Individuals with Tukel syndrome also have postaxial oligodactyly or oligosyndactyly of the hands.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_887449084 |
||
| English | Congenital fibrosis of extraocular muscles |
Congenital fibrosis of the extraocular muscles (CFEOM) refers to at least seven genetically defined strabismus syndromes: CFEOM1A, CFEOM1B, CFEOM2, CFEOM3A, CFEOM3B, CFEOM3C, and Tukel syndrome, characterised by congenital non-progressive ophthalmoplegia with or without ptosis (droopy eyelids). In general, affected individuals have severe limitation of vertical gaze (usually upgaze) and variable limitation of horizontal gaze. Individuals with CFEOM frequently compensate for the ophthalmoplegia by maintaining abnormal head positions at rest and by moving their heads rather than their eyes to track objects. Individuals with CFEOM3A may also have intellectual disability, social disability, facial weakness, and/or a progressive axonal peripheral neuropathy (a form of Charcot-Marie-Tooth disease). Individuals with Tukel syndrome also have postaxial oligodactyly or oligosyndactyly of the hands. |
