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freeman-Sheldon syndrome

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


Explore Associated Targets
Mondo Description Freeman-Sheldon syndrome (FSS) is 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.
Uniprot Description A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2A is characterized by contractures of the hands and feet, oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice, puckered lips, and an H-shaped dimple of the chin.
Mondo Term and Equivalent IDs
MONDO:0008675:  freeman-Sheldon syndrome
DOID:0111604: 
GARD:0006466: 
MESH:C535483: 
NCIT:C98931: 
Orphanet:2053: 
SCTID:52616002: 
UMLS:C0265224: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)