Polydactyly is another hereditary limb malformation, characterized by supernumerary digits (ie, more than 5 digits per limb). Like syndactyly, polydactyly is phenotypically variable3 in terms of the limb affected (hand or foot),4 its severity, and its syndromicity or lack thereof.
What type of disorder is polydactyly?
Polydactyly is a condition in which a person has more than five fingers per hand or five toes per foot. It is the most common birth defect of the hand and foot. Polydactyly can occur as an isolated finding such that the person has no other physical anomalies or intellectual impairment.
What kind of mutation is polydactyly?
GLI3 gene mutations can cause several forms of isolated polydactyly. These include postaxial polydactyly type A (PAP-A) and type A/B (PAP-A/B), which are characterized by an extra digit next to the little finger or the small toe.
