brachydactyly type A1

Pathology

• functions as dominant negative

Genetics

• autosomal dominant
• associated with defects in IHH

Clinical manifestations

• brachydactyly
• middle phalanges of all digits rudimentary or fused with terminal phalanges
• proximal phalanges of thumbs & big toes are short

More general terms

• brachydactyly type A

Database

• OMIM: https://mirror.omim.org/entry/112500