Cryptophthalmos syndrome

Common Name(s)

Cryptophthalmos syndrome

Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by {37:van Haelst et al., 2008}). Genetic Heterogeneity of Fraser Syndrome Fraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene ({608945}) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3) is caused by mutation in the GRIP1 gene ({604597}) on chromosome 12q14. See Bowen syndrome ({211200}) for a comparable but probably distinct syndrome of multiple congenital malformations.
 

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Condition Specific Organizations

Following organizations serve the condition "Cryptophthalmos syndrome" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Cryptophthalmos syndrome" returned 4 free, full-text research articles on human participants. First 3 results:

Prenatal sonographic appearance of cryptophthalmos in Fraser syndrome.
 

Author(s): S B Vijayaraghavan, N Suma, S Lata, K Kamakshi

Journal: Ultrasound Obstet Gynecol. 2005 Jun;25(6):629-30.

 

Last Updated: 9 Jun 2005

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Fraser-Cryptophthalmos syndrome with cardiovascular malformations: a rare association.
 

Author(s): Srinivas D Hambire, Priyanka P Bhavsar, Meenakshi B, Anagha V Jayakar

Journal: Indian Pediatr. 2003 Sep;40(9):888-90.

 

Fraser-Cryptophthalmos syndrome is a multiple malformation disorder associated variably with cryptophthalmos (hidden eye), anomalies of the head, nose and ears; syndactyly, renal and genital malformations. In this report, we describe a case of Fraser syndrome with cardiovascular malformations: ...

Last Updated: 7 Oct 2003

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The cryptophthalmos syndrome.
 

Author(s): A Erdener, A Mevsim, I Ulman, I Numanoglu

Journal: J Pak Med Assoc. 1990 Jun;40(6):138-9.

 

Last Updated: 2 Oct 1990

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Cryptophthalmos syndrome" returned 3 free, full-text review articles on human participants. First 3 results:

[Bilateral cryptophthalmos in Fraser syndrome: Case report and review of the literature].
 

Author(s): A Touré, I A Diomandé, H Nouraly, R Bérété, K V Koffi, L Kodjikian

Journal: J Fr Ophtalmol. 2015 May;38(5):e97-e100.

 

Last Updated: 22 May 2015

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Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes.
 

Author(s): A M Slavotinek, C J Tifft

Journal: J. Med. Genet.. 2002 Sep;39(9):623-33.

 

Fraser syndrome is characterised by cryptophthalmos, cutaneous syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation, and musculoskeletal anomalies. The inheritance is autosomal recessive. No diagnostic cytogenetic ...

Last Updated: 2 Sep 2002

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Prenatal detection of Fraser syndrome without cryptophthalmos: case report and review of the literature.
 

Author(s): C Berg, A Geipel, U Germer, A Pertersen-Hansen, M Koch-Dörfler, U Gembruch

Journal: Ultrasound Obstet Gynecol. 2001 Jul;18(1):76-80.

 

Fraser syndrome (cryptophthalmos-syndactyly syndrome) is an autosomal recessive multiple malformation syndrome whose major manifestations are cryptophthalmos, syndactyly, laryngeal atresia and urogenital defects. Enlarged hyperechogenic lungs contrasted by oligohydramnios, non-visualization ...

Last Updated: 7 Aug 2001

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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