Search Ontology:
Human Disease

Freeman-Sheldon syndrome

Term ID
DOID:0111604
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. (3)
References
  • ICD10CM:Q87.0
  • MESH:C535483
  • NCI:C98931
  • ORDO:2053
  • SNOMEDCT_US_2021_09_01:52616002
Ontology
Human Disease   ( DOID:0111604 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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