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Freeman-Sheldon syndrome

Synonyms
Arthrogryposis, Distal, Type 2A; Arthrogryposis, distal, type 2A (Freeman-Sheldon); Craniocarpotarsal dysplasia; Craniocarpotarsal dystrophy; Whistling face-windmill vane hand syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)

Summary

Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120). [from OMIM]

Available tests

34 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (34 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CPSFS1A, CPSFS1B, CPSKF1A, CPSKF1B, DA2A, DA2B, DA2B3, DA8, HEMHC, MYHC-EMB, MYHSE1, SMHCE, MYH3
    Summary: myosin heavy chain 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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