ADULT syndrome is due to autosomal dominant mutations of the TP63 gene, which encodes the p63 protein. TP63 mutations cause deformities because the p63 protein is critical in embryonic development of limbs and other ectodermal tissues. 7 mutations have been found, the commonest forms being R298Q and R243W, in which encoding for arginine is changed to glutamine at position 298 and tryptophan at position 243 respectively. Other p63 genes mutation syndromes include ectrodactyly–ectodermal dysplasia–cleft syndrome (EEC) and Hay-Wells syndromes.
Acro–dermato–ungual–lacrimal–tooth syndrome
Oral allergy syndrome
Reynolds syndrome
Oculomucocutaneous syndrome
Oculoauricular syndrome
Nablus mask-like facial syndrome
Neck-tongue syndrome
Floppy eyelid syndrome