split-hand/foot malformation type 4
split-hand/foot malformation type 4A presumably autosomal dominant limb malformation syndrome (OMIM:605289) involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals and metatarsals. There is some overlap between the mutational spectra of this condition and ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3).
Caused by defects of TP63, which encodes a p53 transcription factor that acts as a sequence-specific DNA-binding regulator of epithelial morphogenesis and is required for limb formation from the apical ectodermal ridge.
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