Limb-mammary syndrome

Definition:

Limb-mammary syndrome (LMS) is a condition characterized by ectrodactyly, cleft palate, and aplasia or hypoplasia of the mammary gland and nipple. Unlike its allelic disorder EEC syndrome, LMS patients do not have hair and skin defects.

References:

[1]. H G Brunner, et al. The p63 gene in EEC and other syndromes. J Med Genet. 2002 Jun;39(6):377-81. [Content Brief]

[2]. Han G Brunner, et al. P63 gene mutations and human developmental syndromes. Am J Med Genet. 2002 Oct 15;112(3):284-90. [Content Brief]

[3]. Manuela Priolo, et al. Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms. Am J Med Genet A. 2009 Sep;149A(9):2003-13. [Content Brief]

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