Term Name: | Freeman-Sheldon syndrome |
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Synonyms: | craniocarpotarsal dysplasia, craniocarpotarsal dystrophy, whistling face syndrome, whistling face-windmill vane hand syndrome |
Definition: | A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. |
Ontology: | Human Disease [DOID:0111604] ( DOID:0111604 ) |