Limb-Mammary, syndrome
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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