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.
Lehmann K et. al. (2007) A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.[^]
Maroteaux P et. al. (1972) [Multiple synostosis disease].[^]