Distal arthrogryposis type 4 (DA4) is distinguished by the presence of scoliosis. The transmission is autosomal dominant and the condition has been observed across multiple generations in families. Mental retardation and syndactyly can be seen in some cases.
Detailed clinical description
In DA4 the scoliosis can be mild to severe, with the possibility of fusion of cervical vertebrae and osteophyte formation. Typical signs include camptodactyly, inability to straighten the elbow, congenital clubfoot, talus valgus deformity, secondary muscle hypoplasia of both legs, low frontal and posterior hairline, hypoplastic forehead, nystagmus, osteopenia, asymmetry of the calvaria, tibial or fibular deviation of the toes, syndactyly of several toes and torticollis. Severe mental retardation is diagnosed in some cases.
No gene has been so far associated to distal arthrogryposis type 4.
Genetic testing strategy
No gene has been so far associated to distal arthrogryposis type 4. However, since arthrogryposes are clinically and genetically heterogeneous, in case of clinical suspicion of any arthrogryposis subtype, panel testing (EXOME PANEL) is recommended.
Panel testing recommended at Breda Genetics for this condition: