contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A (DOID:0081321)
Alliance: disease page
Synonyms: Autosomal dominant multiple pterygium syndrome
Alt IDs: OMIM:178110, ORDO:65743
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.