Blepharophimosis

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 form a syndrome caused by mutation of the FOXL2 gene, called BPES. It can occur with (type I) or without premature ovarian failure (type II).

Pre-mature ovarian failure may be associated with the syndrome, leading to early menopause. 

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Article Information

rID: 43154
System: Paediatrics
Synonyms or Alternate Spellings:
  • Blepharophimosis
  • BPES
  • Ptosis and epicanthus inversus syndrome
  • Blepharophimosis ptosis and epicanthus inversus syndrome

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