contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A

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 sho

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.

Signs and symptoms

• Short neck
• Camptodactyly
• Short stature
• Webbed neck
• Downslanted palpebral fissures
• Long nasal bridge
• Scoliosis
• Knee flexion contracture
• Elbow contracture
• Vertebral fusion

Also known as: Autosomal dominant multiple pterygium syndrome