Limb-mammary syndrome

Limb mammary syndrome, or LMS, is a rare form of ectodermal dysplasia. It is characterized by malformations of the hands and feet, the severity of which can vary greatly between the affected and the left and right limbs, as well as hypoplasia or aplasia of the mammae or mamilla.

More rarely, lacrimal duct atresia, nail dysplasia, hyprodontia, hypohidrosis, ear pits and cleft palate occur. However, skin and hair are not affected by abnormalities.

The cause of the autosomal dominant syndrome is a mutation of the TP63 gene with loss of function of exons 13 and 14.

Limb mammary syndrome, or LMS for short, is a rare form of ectodermal dysplasia. It is characterized by malformations of the hands and feet, the severity of which may vary greatly between affected persons and the left and right limbs, as well as hypoplasia or aplasia of the mammae or nipples. Rarely, atresia, nails dysplasia, hyprodontia, hypohidrosis of ear humps, and cleft palate occur less frequently. However, skin and hair are not affected by abnormalities.

The cause of the autosomal dominant syndrome is a mutation of the TP63 gene with loss of function of exons 13 and 14.