Fraser syndrome

Definition:

Fraser syndrome or cryptophthalmos is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos with completely fused eyelids, partial syndactyly, renal abnormalities, and genital malformations.

References:

[1]. A M Slavotinek, et al. Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes. J Med Genet. 2002 Sep;39(9):623-33. [Content Brief]

[2]. I T Thomas, et al. Isolated and syndromic cryptophthalmos. Am J Med Genet. 1986 Sep;25(1):85-98. [Content Brief]

[3]. M Kabra, et al. Fraser-cryptophthalmos syndrome. Indian J Pediatr. 2000 Oct;67(10):775-8. [Content Brief]

[4]. Maartje J Vogel, et al. Mutations in GRIP1 cause Fraser syndrome. J Med Genet. 2012 May;49(5):303-6. [Content Brief]

[5]. Petros Petrou, et al. The Fras1/Frem family of extracellular matrix proteins: structure, function, and association with Fraser syndrome and the mouse bleb phenotype. Connect Tissue Res. 2008;49(3):277-82. [Content Brief]

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