Apert syndrome

Definition:

Apert syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, severe syndactyly of hands and feet, and dysmorphic facial features. Other frequent complications include cleft palate and learning disability. Over 98% of cases are caused by specific missense mutations of FGFR2, either Ser252Trp or Pro253Arg.

References:

[1]. David Johnson, et al. Craniosynostosis. Eur J Hum Genet. 2011 Apr;19(4):369-76. [Content Brief]

[2]. Farmaditya E P Mundhofir, et al. p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients. Singapore Med J. 2013 Mar;54(3):e72-5. [Content Brief]

[3]. Tuba Tulay Koca, et al. Apert syndrome: A case report and review of the literature. North Clin Istanb. 2016 May 14;3(2):135-139. [Content Brief]

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