Catalog

Brachydactyly-long thumb syndrome

No MMS code

Link to WHO Definition

Brachydactyly-long thumb syndrome – http://id.who.int/icd/entity/1621041627

Brachydactyly-long thumb syndrome is a very rare genetic disorder characterized by shortened fingers (brachydactyly) and an abnormally long thumb, alongside other features like joint stiffness and potential heart abnormalities. It is an autosomal dominant condition, meaning a child only needs one copy of the mutated gene from a parent to inherit the syndrome.