Feingold syndrome

Definition:

Feingold syndrome (FGLDS) is characterized by limb malformations, microcephaly, esophageal/duodenal atresias, and learning disability. Feingold syndrome is caused by mutations in MYCN and inherited as an autosomal dominant trait. Recently, individuals sharing the skeletal abnormalities of FGLDS but lacking mutations in MYCN, were found to harbour deletions of the MIR17HG gene. These individuals share many of the characteristics of FGLDS except for gastrointestinal atresia. The condition was termed Feingold syndrome type 2 (FGLDS2).

References:

[1]. Alexandra Tészás, et al. Expanding the clinical spectrum of MYCN-related Feingold syndrome. Am J Med Genet A. 2006 Oct 15;140(20):2254-6. [Content Brief]

[2]. Hooman Ganjavi, et al. A fourth case of Feingold syndrome type 2: psychiatric presentation and management. BMJ Case Rep. 2014 Nov 12;2014:bcr2014207501. [Content Brief]

[3]. Loïc de Pontual, et al. Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans. Nat Genet. 2011 Sep 4;43(10):1026-30. [Content Brief]

[4]. S Mundlos, et al. The brachydactylies: a molecular disease family. Clin Genet. 2009 Aug;76(2):123-36. [Content Brief]

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