Brachydactyly type A1, C is an autosomal dominant disorder caused by mutations of the GDF5 gene. Characteristic is a shortage or even absence of middle phalanges of all digits. Patients exhibit a short stature and some other skeletal abnormalities.
Brachydactyly type A1 | ||||
Brachydactyly type A1, A | ||||
Brachydactyly type A1, B | ||||
Brachydactyly type A1, C | ||||
GDF5 | ||||
Brachydactyly type A1, D | ||||
1. |
Byrnes AM et al. (2010) Mutations in GDF5 presenting as semidominant brachydactyly A1. |
2. |
OMIM.ORG article Omim 615072 |