EEC syndrome (ectrodactyly-ectodermal dysplasia and cleft lip/palate, OMIM 604292) is an autosomal dominant disorder involving tissues of epithelial mesenchyme origin and is characterized by ectrodactyly (split-hand and split-foot malformation); anomalies of the skin, hair, teeth and nails; cleft palate (CP) with or without cleft lip (CL). LMS syndrome (limb-mammary syndrome, OMIM 603543) is a condition whose features overlap EEC and is characterized by ectrodactyly, mammary-gland and nipple hypoplasia, cleft palate without cleft lip, and absence of hair and skin defects [van Bokhoven et al., 1999]. Other common manifestations of related conditions include lacrimal duct stenosis, conductive hearing loss, and structural urogenital anomalies [Roelfsema and Cobben, 1996; Rinne et al., 2006]. Heterozygous mutations in the TP63gene of chromosome 3q27 [van Bokhoven et al., 1999] are associated with all reported cases of LMS syndrome and most cases with EEC syndrome. The TP63 gene encodes various isoforms of the transcription factor p63; the variants hold different functional roles in the developing epidermis [Yang et al., 1998; Wu et al., 2003]. Expression of p63 mRNAs is not restricted to the skin; it has been detected in a variety of other tissues including placenta, skeletal muscle, heart, thymus, trachea, gonads and uterus [Osada et al., 1998; Dellavalle et al., 2001].