There is a range of signs and symptoms including cleft lip or palate, mental retardation and various forms of ectodermal dysplasia. Additional symptoms may include fused eyelids, absent nails, delayed bone growth and dry skin. It is believed that this syndrome follows an autosomal dominant pattern of inheritance with incomplete penetrance, and caused by a mutation affecting the TP63 gene. It has been suggested that this syndrome, AEC syndrome and Rapp–Hodgkin syndrome may be variations of the same disease.
Rosselli–Gulienetti syndrome
Naegeli–Franceschetti–Jadassohn syndrome
Gómez–López-Hernández syndrome
Muir–Torre syndrome
Galloway Mowat syndrome
Sanjad-Sakati syndrome
Fraser syndrome
Townes–Brocks syndrome