Blepharophimosis, Ptosis, and Epicanthus Inversus

A hereditary condition characterized by blepharophimosis, epicanthus inversus (fold curving in the mediolateral direction, inferior to the inner canthus), low nasal bridge, and PTOSIS of the eyelids. In addition, affected females may present with urogenital abnormalities, low ESTROGEN and PROGESTERONE, and infertility due to PREMATURE OVARIAN FAILURE in Type I BPES. Mutations in the FOXL2 gene have been identified. OMIM: 110100

Also Known As:

Networked: 19 relevant articles (0 outcomes, 2 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Primary Ovarian Insufficiency
2.	Telecanthus
3.	Atrial Heart Septal Defects (Atrial Septal Defect)
4.	Galactosemias (Galactosemia)

Experts

1.	Veitia, Reiner A: 4 articles (09/2011 - 03/2007)
2.	De Baere, Elfride: 4 articles (02/2009 - 02/2003)
3.	Beysen, Diane: 3 articles (11/2008 - 02/2003)
4.	Dipietromaria, Aurélie: 2 articles (09/2011 - 02/2009)
5.	De Paepe, Anne: 2 articles (11/2008 - 02/2003)
6.	Fellous, Marc: 2 articles (11/2008 - 02/2003)
7.	Leroy, Bart P: 2 articles (11/2008 - 02/2003)
8.	Meire, Françoise: 2 articles (11/2008 - 02/2003)
9.	Plomp, Astrid: 2 articles (11/2008 - 02/2003)
10.	Cao, WenHong: 1 article (01/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Blepharophimosis, Ptosis, and Epicanthus Inversus:

1.	SuspensionsIBA 07/01/2013 - "A 5-year-old girl with blepharophimosis syndrome underwent frontalis sling suspension using an open sky technique. " 01/01/2020 - "The purpose of this study was to evaluate the functional and cosmetic outcomes of a new modified Fox pentagon technique performed using polytetrafluoroethylene in frontalis suspension surgery for blepharophimosis syndrome. " 01/01/2020 - "A modified Fox pentagon technique performed using a polytetrafluoroethylene sling in frontalis suspension to treat blepharophimosis syndrome." 01/01/2015 - "Rail-roading technique using 18 gauge intravenous catheter and silicon rod for frontalis suspension in blepharophimosis syndrome."
2.	Polytetrafluoroethylene (Teflon)FDA Link 01/01/2020 - "The purpose of this study was to evaluate the functional and cosmetic outcomes of a new modified Fox pentagon technique performed using polytetrafluoroethylene in frontalis suspension surgery for blepharophimosis syndrome. " 01/01/2020 - "A modified Fox pentagon technique performed using a polytetrafluoroethylene sling in frontalis suspension to treat blepharophimosis syndrome."
3.	Forkhead Transcription Factors (Forkhead Box Proteins)IBA 11/01/2008 - "Blepharophimosis syndrome (BPES) is caused by loss-of-function mutations in the single-exon forkhead transcription factor gene FOXL2 and by genomic rearrangements of the FOXL2 locus. " 01/01/2014 - "A novel insertion in the forkhead transcription factor 2 (FOXL2) was identified in a Chilean patient with blepharophimosis, ptosis, and epicanthus inversus syndrome associated with premature ovarian failure (BPES type I). " 03/02/2010 - "The FOXL2 forkhead transcription factor is expressed in ovarian granulosa cells, and mutated FOXL2 causes the blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) and predisposes to premature ovarian failure. " 02/15/2009 - "FOXL2 is a forkhead transcription factor, essential for ovarian function, whose mutations are responsible for the blepharophimosis syndrome, characterized by craniofacial defects, often associated with premature ovarian failure. " 02/01/2003 - "Blepharophimosis syndrome (BPES), an autosomal dominant syndrome in which an eyelid malformation is associated (type I) or not (type II) with premature ovarian failure (POF), has recently been ascribed to mutations in FOXL2, a putative forkhead transcription factor gene. "
4.	Transcription Factors (Transcription Factor)IBA 09/01/2011 - "Mutations of the transcription factor FOXL2, involved in cranio-facial and ovarian development, lead to the Blepharophimosis Syndrome. " 01/01/2016 - "FOXL2 is an evolutionally conserved transcription factor, and its mutations cause blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES), wherein affected females display eyelid defects and premature ovarian failure (POF). "
5.	polyalanineIBA 03/01/2007 - "A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction." 03/01/2002 - "A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid."
6.	TitaniumIBA 09/01/1994 - "A custom-designed, titanium medial canthal tendon screw (MCTS) was used successfully to correct telecanthus in three patients--two with blepharophimosis syndrome and one with congenital telecanthus. "
7.	SiliconIBA 01/01/2015 - "Rail-roading technique using 18 gauge intravenous catheter and silicon rod for frontalis suspension in blepharophimosis syndrome."
8.	Polypropylenes (Polypropylene)IBA 03/01/2017 - "Surgical Outcome of Epicanthus and Telecanthus Correction by Double Z-Plasty and Trans-Nasal Fixation with Prolene Suture in Blepharophimosis Syndrome."
9.	PlasticsIBA 09/01/2019 - "Seven children with blepharophimosis syndrome underwent medial canthus reconstruction surgery at a single center with the collaboration of a pediatric oculoplastic surgeon and craniofacial plastic surgeon to improve eye opening through correction of the lid contours and telecanthus. "
10.	Luteinizing Hormone (Lutropin)FDA LinkGeneric 12/01/1997 - "A 26-year-old woman with blepharophimosis syndrome and menstrual abnormality had increased serum luteinizing hormone and serum follicle-stimulating hormone levels. "

Therapies and Procedures

1.	Operative Surgical Procedures 05/01/2012 - "The purpose of this study was to report the functional and cosmetic outcome of single stage surgical procedure for correction of the classic components of Blepharophimosis syndrome. "
2.	Catheters 01/01/2015 - "Rail-roading technique using 18 gauge intravenous catheter and silicon rod for frontalis suspension in blepharophimosis syndrome."
3.	Sutures (Suture) 03/01/2017 - "Surgical Outcome of Epicanthus and Telecanthus Correction by Double Z-Plasty and Trans-Nasal Fixation with Prolene Suture in Blepharophimosis Syndrome."
4.	Drug Therapy (Chemotherapy) 06/15/1999 - "In chromosome X abnormalities, chemotherapy, galactosemia and blepharophimosis syndrome apoptosis is increased. "