Term Name:	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
Synonyms:	Autosomal dominant multiple pterygium syndrome
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.
Ontology:	Human Disease [DOID:0081321]   ( DOID:0081321 )