| Metadata | |
|---|---|
| ID | DOID:0111604 |
| Name | Freeman-Sheldon syndrome |
| Definition | A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. https://ghr.nlm.nih.gov/condition/freeman-sheldon-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/19571066, https://www.ncbi.nlm.nih.gov/pubmed/21032118 |
| Xrefs |
SNOMEDCT_US_2021_09_01:52616002 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
craniocarpotarsal dysplasia [EXACT] craniocarpotarsal dystrophy [EXACT] whistling face syndrome [EXACT] whistling face-windmill vane hand syndrome [EXACT] |
| Parent Relationships |