contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B

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_m

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.

Signs and symptoms

• Fused thoracic vertebrae
• Scoliosis
• Flexion contracture
• Short neck
• Tarsal synostosis
• Absent phalangeal crease
• Webbed neck
• Fused cervical vertebrae
• Antecubital pterygium
• Cleft palate

Also known as: Autosomal recessive multiple pterygium syndrome