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GTR Home > Conditions/Phenotypes > Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A

Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A

Synonyms
Contractures, pterygia, and variable skeletal fusions syndrome 1A; Distal arthrogryposis type 8; MULTIPLE PTERYGIUM SYNDROME, AUTOSOMAL DOMINANT; Multiple Pterygium Syndrome, Dominant
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Contractures, pterygia, and spondylocarpotarsal fusion syndrome-1A (CPSFS1) is characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature. Progression of vertebral fusions has been observed, and inter- and intrafamilial variability has been reported (Carapito et al., 2016; Zieba et al., 2017; Cameron-Christie et al., 2018). An autosomal recessive form of CPSFS (CPSFS1B; 618469) is caused by compound heterozygous mutation in the MYH3 gene. [from OMIM]

Available tests

18 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (18 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

Help
Imported from Human Phenotype Ontology (HPO)

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