OBO ID: DOID:0111604
Term Name: Freeman-Sheldon syndrome Search Ontology:
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_2020_03_01:205799002
Ontology: Human Disease   (DOID:0111604)
OTHER Freeman-Sheldon syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None