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GTR Home > Conditions/Phenotypes > Contractures, pterygia, and variable skeletal fusions syndrome 1B

Contractures, pterygia, and variable skeletal fusions syndrome 1B

Synonyms
CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B

Summary

Contractures, pterygia, and spondylocarpotarsal fusion syndrome-1B (CPSFS1B) is characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions. Inter- and intrafamilial variability has been observed (Cameron-Christie et al., 2018). An autosomal dominant form of contractures, pterygia, and spondylocarpotarsal fusion syndrome (CPSFS1A; 178110) is caused by heterozygous mutation in the MYH3 gene. [from OMIM]

Available tests

7 tests are in the database for this condition.

Clinical tests (7 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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