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