brachydactyly type B2
Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.
MONDO:0019066
obsolete syndrome with brachydactyly (obsolete MONDO:0019066)
excluded_subClassOf
MONDO:0019676
brachydactyly type B
is_a
MONDO:0100521
NOG-related symphalangism spectrum disorder
is_a
BDB2
exact
brachydactyly, type B2
related