brachydactyly type B

Classification

• brachydactyly type B1

Genetics

• autosomal dominant
• associated with defects in ROR2 (type B1)

Clinical manifestations

• brachydactyly, syndactyly
• hypoplasia/aplasia of distal phalanges & nails
• the middle phalanges are short
• the terminal phalanges are rudimentary or absent
• both fingers & toes are affected
• the thumbs & big toes are usually deformed

More general terms

• brachydactyly (microdactyly)

Database

• OMIM: https://mirror.omim.org/entry/113000
• OMIM: https://mirror.omim.org/entry/602337