Short stature, microcephaly, and endocrine dysfunction

Definition:

Short stature, microcephaly, and endocrine dysfunction (SSMED) is one of the microcephalic primordial dwarfism characterized by severe postnatal growth failure, microcephaly, gonadal failure, metabolic syndrome, and possibly tumor predisposition. It has been reported that mutations in XRCC4 cause this disease. XRCC4 plays a critical role in non-homologous end-joining DNA repair.

References:

[1]. Christiaan de Bruin, et al. An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome. J Clin Endocrinol Metab. 2015 May;100(5):E789-98. [Content Brief]

[2]. Jennie E Murray, et al. Mutations in the NHEJ component XRCC4 cause primordial dwarfism. Am J Hum Genet. 2015 Mar 5;96(3):412-24. [Content Brief]

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