Brachydactyly type B2

Brachydactyly type B2 is an autosomal dominant disorder caused by mutations of the NOG gene. Characteristic is a shortage of distal phalanges of digits 2-5. Occasionally nail deformities are observed. Short stature and other skeletal abnormalities are not typical.

Systematic

Brachydactyly
	Brachydactyly type A1
	Brachydactyly type A2
	Brachydactyly type A3
	Brachydactyly type A4
	Brachydactyly type B1
	Brachydactyly type B2
		NOG
	Brachydactyly type C
	Brachydactyly type D
	Brachydactyly type E1
	Brachydactyly type E2
	Brachydactyly types B and E combined
	Brachydactyly-syndactyly
	Fibular aplasia-complex brachydactyly syndrome

References:

1.	Lehmann K et al. (2007) A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.

2.	Maroteaux P et al. (1972) [Multiple synostosis disease].

3.	Orphanet article Orphanet ID 140908

4.	OMIM.ORG article Omim 611377