- Blepharophimosis
Infobox_Disease
Name = PAGENAME
Caption =
DiseasesDB = 33297
ICD10 = ICD10|H|02|5|h|00, ICD10|Q|10|3|q|10
ICD9 = ICD9|374.46, ICD9|743.62
ICDO =
OMIM = 110100
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID = D016569Blepharophimosis is a condition where the patient has bilateral ptosis with reduced lid size. The nasal bridge is flat and there is hypoplastic orbital rim. [ [http://www.mrcophth.com/ptosis/blepharophimosis.html Photo of blepharophimosis patient] ] Both the vertical and horizontal
palpebral fissures (eyelid opening) are shortened.Vignes (1889) probably first described this entity, a dysplasia of theeyelid s.Presentation
In addition to small
palpebral fissure s, features include epicanthus inversus (fold curving in the mediolateral direction, inferior to the inner canthus), low nasal bridge, and ptosis of the eyelids.BPES
Blepharophimosis, ptosis, and epicanthus inversus syndrome, either with premature ovarian failure (BPES type I) or without (BPES type II), is caused by mutations in the
FOXL2 gene . [ [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=110100 OMIM article on Blepharophimosis] ]References
External links
* [http://plasticsurgery4u.com/proceedure_folder/eyelid_recon_folder/blepharophimosis.html Description of surgical steps in blepharophimosis]
* [http://www.kumc.edu/gec/support/blepharo.html Links to support groups for blepharophimosis]
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