MDPL syndrome

Definition:

Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) syndrome is a rare autosomal dominant systemic disorder recently described. It has been reported that mutations in POLD1 cause this disease.

References:

[1]. Frederic Reinier, et al. Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies. Metabolism. 2015 Nov;64(11):1530-40. [Content Brief]

[2]. Michael N Weedon, et al. An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. Nat Genet. 2013 Aug;45(8):947-50. [Content Brief]

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