limb-mammary syndrome


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limb-mammary syndrome

A presumably autosomal dominant condition (OMIM:603543) characterised by severe hand/foot anomalies and hypoplasia/aplasia of the mammary gland and nipple; less commonly, lacrimal-duct atresia, nail dysplasia, hypohidrosis, hypodontia, and cleft palate with or without bifid uvula.

Molecular pathology
Caused by defects of TP63, which encodes a p53 transcription factor that acts as a sequence-specific DNA-binding regulator of epithelial morphogenesis, required for limb formation from the apical ectodermal ridge.