Brachydactyly type A1, C

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.

Systematic

Brachydactyly type A1
	Brachydactyly type A1, A
	Brachydactyly type A1, B
	Brachydactyly type A1, C
		GDF5
	Brachydactyly type A1, D

References:

1.	Byrnes AM et al. (2010) Mutations in GDF5 presenting as semidominant brachydactyly A1.

2.	OMIM.ORG article Omim 615072