Term Name:	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B
Synonyms:	Autosomal recessive 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, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions and that has_material_basis_in compound heterozygous mutation in the MYH3 gene on chromosome 17p13.
Ontology:	Human Disease [DOID:0081322]   ( DOID:0081322 )