English Version
J. Mathers, J. Smith

Fraser syndrome

Fraser syndrome

Schlüsselwörter Fraser syndrome; ICD 10: Q87.0; Cryptophthalmos syndrome
Keywords Fraser syndrome; ICD 10: Q87.0; Cryptophthalmos syndrome
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Autosomal-recessive inherited congenital disorder of cryptophthalmos, ear and facial abnormalities, cutaneous syndactyly and genital malformations [1]. Classical Fraser syndrome is caused by mutation of the FRAS1 gene located on chromosome 4 at 4q21.21 [1]. Mutations of FREM1, FREM2 and GRIP1 genes can cause a similar clinical phenotype to Fraser syndrome [2]. First described by Zehender and Manz in 1872 [3] as cryptophthalmos alone but the  complete syndrome was described by Fraser in 1962 [4]. Diagnosis of Fraser syndrome is complex and there is debate on the criteria for a diagnosis [5]. Current incidence in Europe is 2 per million live births with 27.8% of infants with Fraser syndrome from consanguineous parents [6].


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