Freeman-Sheldon syndrome (Q104862)
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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 |
||
| 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. |
