Blepharophimosis

Last revised by Frank Gaillard on 14 May 2024

Citation, DOI, disclosures and article data

Citation:

Hacking C, Gaillard F, Bell D, et al. Blepharophimosis. Reference article, Radiopaedia.org (Accessed on 02 Jun 2024) https://doi.org/10.53347/rID-43154

DOI:

https://doi.org/10.53347/rID-43154

Permalink:

https://radiopaedia.org/articles/43154

rID:

43154

Article created:

25 Feb 2016, Craig Hacking ◉

Disclosures:

At the time the article was created Craig Hacking had no recorded disclosures.

View Craig Hacking's current disclosures

Last revised:

14 May 2024, Frank Gaillard ◉ ◈

Disclosures:

At the time the article was last revised Frank Gaillard had no financial relationships to ineligible companies to disclose.

View Frank Gaillard's current disclosures

Revisions:

5 times, by 5 contributors - see full revision history and disclosures

Systems:

Head & Neck, Paediatrics

Synonyms:

Blepharophimosis

Blepharophimosis is a dysplasia of the eyelids characterized by horizontal shortening of the palpebral fissure. It is often associated with ptosis or telecanthus ².

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).