Limb-Mammary Syndrome is one of the phenotypes associated with mutations in TP63.
Chromosome: 3q28
Gene: tumor protein 63 (TP63)
Inheritance: autosomal dominant
Findings are typically present at birth.
Clinical features:
(1) breast and/or nipple hypoplasia
(2) lacrimal duct atresia complicated by chronic conjunctivitis and blepharitis
(3) nail dysplasia
(4) hypodontia
(5) cleft lip and/or cleft palate
(6) limb anomalies, including split hand/foot malformation
Skin and hair are typically normal.
