X-linked corneal dermoid
Synonyms: Corneal dystrophy epithelial-short stature syndrome | Guízar Vázquez-Luengas-Muñoz syndrome
X-linked corneal dermoid (X-CND) is an exceedingly rare benign congenital corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques as well as fine blood vessels covering the central cornea and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
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X-linked corneal dermoid?
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