Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Brachydactyly type A1, D

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.

Systematic

Brachydactyly type A1
Brachydactyly type A1, A
Brachydactyly type A1, B
Brachydactyly type A1, C
Brachydactyly type A1, D
BMPR1B

References:

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 [^]
Update: April 29, 2019