Pierpont syndrome

Definition:

Pierpont syndrome is a rare disorder characterized by developmental delay, characteristic facial gestalt, hearing loss, and abnormal fat distribution in the distal limbs. Mutations in TBL1XR1 have been described recently in patients with this disease.

References:

[1]. Anne-Karin Kahlert, et al. Pierpont syndrome: report of a new patient. Clin Dysmorphol. 2017 Oct;26(4):205-208. [Content Brief]

[2]. Charlotte A Heinen, et al. A specific mutation in TBL1XR1 causes Pierpont syndrome. J Med Genet. 2016 May;53(5):330-7. [Content Brief]

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