Blepharophimosis

Dr Daniel J Bell and Dr Craig Hacking et al.

Blepharophimosis is dysplasia of the eyelids, where there is horizontal shortening of palpebral fissure. It is often associated with ptosis.

Blepharophimosis is a feature of Dubowitz syndrome and Smith Lemli Opitz syndrome.

Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is caused by a mutation of the FOXL2 gene. It can occur with (type I), or without premature ovarian failure (type II).

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Article information

rID: 43154
Synonyms or Alternate Spellings:
  • Blepharophimosis

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