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blepharophimosis

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Blepharophimosis is a congenital anomaly in which the eyelids are underdeveloped such that they cannot open as far as usual and permanently cover part of the eyes. Both the vertical and horizontal palpebral fissures (eyelid openings) are shortened; the eyes also appear spaced more widely apart as a result, known as telecanthus.

Key facts

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Blepharophimosis
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18-year-old female with blepharophimosis as a result of blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) type 1
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Medical genetics

via Wikipedia infobox

Research

872 papers

via PubMed

~2 min read

Encyclopedic overview

6 sections
Contents
  • Presentation
  • Associated conditions
  • History
  • See also
  • References
  • External links

Blepharophimosis is a congenital anomaly in which the eyelids are underdeveloped such that they cannot open as far as usual and permanently cover part of the eyes. Both the vertical and horizontal palpebral fissures (eyelid openings) are shortened; the eyes also appear spaced more widely apart as a result, known as telecanthus.

==Presentation== In addition to small palpebral fissures, features can include epicanthus inversus (fold curving in the mediolateral direction, inferior to the inner canthus), low nasal bridge, ptosis of the eyelids and telecanthus.

Excerpted from Wikipedia’s “blepharophimosis” article, available under the CC BY-SA 4.0 licence.