Term Name: Freeman-Sheldon syndrome
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 )

Relationships
is a type of: distal arthrogryposis
has subtype: autosomal recessive Whistling face syndrome distal arthrogryposis type 2A