Conditions / Musculoskeletal
distal arthrogryposis type 7
info ยท Musculoskeletal
A distal arthrogryposis characterized by inability to open the mouth fully and pseudocamptodactyly that has_material_basis_in heterozygous mutation in the MYH8 gene on chromosome 17p13.1.
Signs and symptoms
- Trismus
- Microcephaly
- Talipes equinovarus
- Narrow mouth
- Distal arthrogryposis
- Joint contracture of the hand
- Foot joint contracture
- Mild microcephaly
- Absent antihelix
- Micrognathia
Also known as: DA7; Dutch-Kentucky syndrome; Hecht syndrome; Hecht-Beals syndrome; mouth, inability to completely open, and short finger-flexor tendons