Disease

contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A

Definition

A contractures, pterygia, and spondylocarpotarsal fusion syndrome that 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 and that has material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.

Synonyms

Autosomal dominant multiple pterygium syndrome

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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