Definition
Brachydactyly is a congenital malformation characterized by an abnormal shortness of the fingers. This bone dysostosis occurs due to reduced length or absence of one or more phalanges, or due to a corresponding hypoplasia of the metatarsal and / or metacarpal bone.
Brachydactyly can therefore affect only one finger or, more often, all the fingers of the hand or foot.
Brachydactyly can manifest itself in an isolated form or be part of complex malformative syndromes; it is frequently observed in patients with Down syndrome and achondroplasia.
Sometimes, the abnormal shortening of the extremities is associated with other congenital malformations, such as syndactyly (fusion of two or more fingers) or polydactyly (presence of a supernumerary finger).
Possible Causes * of Brachydactyly
- Achondroplasia
- Progressive Oxygenating Fibrodysplasia
- Spherocytosis
- Down syndrome
