FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Freeman-Sheldon syndrome ID (Ontology) DOID:0111604 (Human Disease)
Definition A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures.
Also Known As "craniocarpotarsal dysplasia" ; "craniocarpotarsal dystrophy" ; "whistling face syndrome" (for all, see Synonyms field below)
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DO.org
Annotations
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 Genes
 Freeman-Sheldon syndrome       1
 for disease ribbon | Freeman-Sheldon syndrome       1
 model of | Freeman-Sheldon syndrome       1
Spanning Tree (Parents/Children)
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  muscle tissue disease
   |__distal arthrogryposis
       |__Freeman-Sheldon syndrome  9 rec.
           |__autosomal recessive Whistling face syndrome
           |__distal arthrogryposis type 2A 9 rec.
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Is a distal arthrogryposis
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Synonyms
  • "craniocarpotarsal dysplasia" EXACT
    "craniocarpotarsal dystrophy" EXACT
    "whistling face syndrome" EXACT
    "whistling face-windmill vane hand syndrome" EXACT
Secondary IDs
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ICD10CM:Q87.0
MESH:C535483
MIM:193700
NCI:C98931
ORDO:2053
SNOMEDCT_US_2021_09_01:52616002