Cryptophthalmos

Common Name(s)

Cryptophthalmos

Cryptophthalmos is a rare congenital (present at birth) condition in which the skin grows continuously over the individual’s eyeball resulting in the absence of eyelids. There are three types of cryptophthalmos: complete, incomplete, and symblepharon. The complete type is the most common of the three in which the skin grows from the forehead all the way down to the cheeks. The eye globe underneath is usually abnormal. The incomplete and symblepharon types occur when only a part of the skin around the eye is fused in differing locations with some portion of the eyelid present. Cryptophthalmos is usually bilateral, meaning it occurs in both eyes. Cryptophthalmos is usually associated with other birth defects such as mental impairment, ear and dental abnormalities, syndactyly (fused fingers or toes), and nasal and lip anomalies. It can also be seen as part of several genetic conditions including Fraser syndrome (please also visit Fraser syndrome.). Surgical reconstruction or separation of the eyelids is usually required and corneal transplant is done under certain circumstances to allow for the development of vision. If your baby has been diagnosed with cryptophthalmos, talk with your pediatrician about the most current treatment options.

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Advocacy and Support Organizations

 

Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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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" returned 15 free, full-text research articles on human participants. First 3 results:

[Unilateral nonsyndromic cryptophthalmos].
 

Author(s): G Cao, D Navacchia, J O Zárate

Journal: An Pediatr (Barc). 2008 Feb;68(2):194-5.

 

Last Updated: 17 Mar 2008

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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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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" returned 4 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

There are currently no open clinical trials for this condition.