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Freeman-Sheldon syndrome
rareA 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.
- Identifiers
- MONDO:0008675 OMIM:193700Orphanet:2053
- Causal genes
- MYH3
- Part of
- ArthrogryposisCongenital nervous system disorderDistal arthrogryposisMultiple congenital anomalies/dysmorphic syndrome without intellectual disabilitySyndromic disease
- Also known as
- arthrogryposis distal type 2A · arthrogryposis, distal, type 2A · arthrogryposis, distal, type 2A (Freeman-Sheldon) · cranio-carpo-tarsal syndrome · Craniocarpotarsal dysplasia
Subtypes
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