distal arthrogryposis type 1A

A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13.3.

Signs and symptoms

• Overlapping fingers
• Absent distal interphalangeal creases
• Talipes equinovarus
• Ulnar deviation of the hand or of fingers of the hand
• Congenital hip dislocation
• Short stature
• Narrow mouth
• Hip contracture
• Generalized hypotonia
• Calcaneovalgus deformity

Also known as: DA1A