Limb-Mammary, syndrome

[MIM 603 543]

Very rare: < 1/106. Autosomal dominant transmission with incomplete penetrance and variable expression of a mutation of the TP63 gene on 3q 27. It presents many similarities with the  EEC and ADULT syndromes (see these topics).

Association of:

-        severe anomalies of the hands and feet: ectrodactyly, absence, fusion or separation of fingers or toes

-        hypoplasia or aplasia of the mammary glands and nipples

Sometimes: blockage of the tear ducts, nail hypoplasia, hypodontia or early loss of permanent teeth, hypohidrosis, cleft palate with or without bifid uvula.


Anesthetic implications:

difficult peripheral venous access


References : 


Updated: January 2019