Ulnar-mammary syndrome

Definition:

Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder caused by haploinsufficiency of the TBX3 gene. It is characterized by bilateral hypoplasia or aplasia of upper limbs on the ulnar side, mammary and apocrine gland hypoplasia, and genital abnormalities. Delayed puberty is one of the recognized features in UMS.

References:

[1]. Eva Klopocki, et al. Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene. Eur J Hum Genet. 2006 Dec;14(12):1274-9. [Content Brief]

[2]. Helen Linden, et al. Ulnar Mammary syndrome and TBX3: expanding the phenotype. Am J Med Genet A. 2009 Dec;149A(12):2809-12. [Content Brief]

[3]. Shelagh Joss, et al. The face of Ulnar Mammary syndrome?. Eur J Med Genet. 2011 May-Jun;54(3):301-5. [Content Brief]

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