Freeman-Sheldon syndrome (Q104862): Difference between revisions
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A síndrome de Freeman-Sheldon é uma síndrome craniofacial miopática congênita rara. Observa-se uma considerável variabilidade na gravidade dessa condição, mas o diagnóstico requer o seguinte: microstomia, aparência de "face assobiando" (lábios franzidos), defeito em forma de H ou V do queixo e pregas nasolabiais proeminentes. Alguns pacientes não apresentam malformações de membros, mas a maioria sim, geralmente manifestada por camptodactilia com desvio ulnar da mão e "talipes equinovarus". | |||
| description / en | description / en | ||
Freeman-Sheldon syndrome is a rare congenital myopathic craniofacial syndrome. Considerable variability in severity is observed in this condition, but diagnosis requires the following: microstomia, whistling-face appearance (pursed lips), H or V-shaped chin defect, and prominent nasolabial folds. Some patients do not have limb malformations, but most do, typically manifested by camptodactyly with ulnar deviation of the hand and talipes equinovarus. | |||
Revision as of 10:43, 17 August 2026
Freeman-Sheldon syndrome is a rare congenital myopathic craniofacial syndrome. Considerable variability in severity is observed in this condition, but diagnosis requires the following: microstomia, whistling-face appearance (pursed lips), H or V-shaped chin defect, and prominent nasolabial folds. Some patients do not have limb malformations, but most do, typically manifested by camptodactyly with ulnar deviation of the hand and talipes equinovarus.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1314169421 |
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| English | Freeman-Sheldon syndrome |
Freeman-Sheldon syndrome is a rare congenital myopathic craniofacial syndrome. Considerable variability in severity is observed in this condition, but diagnosis requires the following: microstomia, whistling-face appearance (pursed lips), H or V-shaped chin defect, and prominent nasolabial folds. Some patients do not have limb malformations, but most do, typically manifested by camptodactyly with ulnar deviation of the hand and talipes equinovarus. |
