Brachydactyly Type D Thumb

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Note what signs you see.

I (W. Wertelecki, M.D.) see a thumb that is shorter and broader than usual. If this sign is limited to the thumb, is bilateral and generally more prevalent among females and frequently inherited as an autosomal dominant trait, then this represents a brachydactyly type D.

This sign is often called “clubbed thumb” – a MISNOMER – but unfortunately that is ingrained in medical parlance. In fact, “clubbed” thumbs, fingers, toes or digits in general are more likely to be signs of disease than a dysmorphic sign.

Further perspectives are found in the Diagnosis Gallery.


Tags: dxBrachydactyly