Brachydactyly type A1, D is an autosomal dominant disorder caused by mutations of the BMPR1B 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 | ||||
Brachydactyly type A1, D | ||||
BMPR1B | ||||
1. |
Racacho L et al. (2015) Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1. |
2. |
OMIM.ORG article Omim 616849 |