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.

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