FDLAB syndrome

Definition:

Facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs (FDLAB) syndrome, also known as Traboulsi syndrome, is an autosomal recessive disorder. FDLAB syndrome is caused by mutations in ASPH that encodes aspartyl/asparaginyl beta-hydroxylase.

References:

[1]. Ahmad M Mansour, et al. Anterior segment imaging and treatment of a case with syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism. Case Rep Ophthalmol. 2013 Apr 25;4(1):84-90. [Content Brief]

[2]. Nisha Patel, et al. Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome. Am J Hum Genet. 2014 May 1;94(5):755-9. [Content Brief]

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