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Disease association ontology term - MONDO:0008675 - Freeman-Sheldon syndrome

Term summary

ID
MONDO:0008675
Name
Freeman-Sheldon syndrome
Ontology or CV name
Disease association
Definition
A very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.

Parents

Annotation

Disease association

MONDO:0008675 - Freeman-Sheldon syndrome

References:

Genes: