Mutations within the p63 gene (TP63, TP73L) at 3q27 can cause variable autosomal dominant disorders including the following conditions:
EEC syndrome includes spilt-hand/foot malformation, ectodermal dysplasia (abnormalities in hair, teeth, skin, nails and/or lacrimal ducts), and cleft lip/palate.
Hay-Wells syndrome includes ectodermal dysplasia, cleft lip/palate and congenital adhesions between the eyelids.
Isolated Split-Hand/Foot Malformation (SHFM)
GGC also has a current research interest in split-hand/foot malformations.