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Blepharophimosis, ptosis, epicanthus inversus syndrome

AI overview

Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is a rare medical anomaly characterized by blepharophimosis, ptosis and epicanthus inversus.

Key points
  • BPES is inherited in an autosomal dominant manner.
    source quote
    This condition is inherited in an autosomal dominant manner.
  • It is caused by a mutation in the FOXL2 gene located at 3q23.
    source quote
    BPES is caused by a mutation in the gene FOXL2 , located at 3q23 (band 23 on the long arm of chromosome 3 ).
  • There are two types, distinguished by the presence of premature ovarian insufficiency in type 1.
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    There are two types; type 1 is distinguished from type 2 by including the symptom of premature ovarian insufficiency (POI) in females
  • BPES is rare, appearing in 1 in 50,000 individuals.
    source quote
    BPES is rare as it only appears in 1 in 50,000 individuals.
  • It affects slightly more males than females.
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    It affects slightly more males than females.
Symptoms
  • Horizontally narrow eyes (blepharophimosis).
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    horizontally narrow eyes (blepharophimosis)
  • Drooping eyelids (ptosis).
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    drooping eyelids (ptosis)
  • A fold of skin from the side of the nose to the lower eyelid (epicanthus inversus).
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    a fold of skin running from the side of the nose to the lower eyelid (epicanthus inversus)
  • Lack of an eyelid fold.
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    lack of an eyelid fold
  • Appearance of widely spaced eyes (telecanthus).
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    an appearance of widely spaced eyes ( telecanthus )
  • Low nose bridge.
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    low nose bridge
  • Ear malformations including cupping and incomplete development.
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    ear malformations (including cupping and incomplete development)
  • Rarely, microphthalmos (abnormally small eyes).
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    microphthalmos (abnormally small eyes)
  • Rarely, tear ducts in the wrong location.
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    tear ducts in the wrong location
  • Rarely, a high-arched palate.
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    a high-arched palate
  • Type 1 includes premature ovarian insufficiency in females causing menopausal symptoms and infertility.
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    Type 1 BPES is distinguished by including premature ovarian insufficiency (POI) in females, which causes menopausal symptoms and infertility in patients as young as 15 years old.
  • Type 2 is identified by abnormal eyelid development and no infertility.
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    Type 2 is identified by the development of an abnormal eyelid and no infertility in either men or women.
Diagnosis
  • BPES can be suggested by the presence of blepharophimosis, ptosis and/or epicanthus inversus.
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    Though BPES can be suggested by the presence of blepharophimosis, ptosis and/or epicanthus inversus
  • Definitive diagnosis requires genetic testing.
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    it can only be definitively diagnosed by genetic testing
  • A small percentage of patients have a systematic disorder in addition to blepharophimosis.
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    A small percentage of patients tend to have a systematic disorder in addition to blepharophimosis.
Treatment
  • The main treatment is symptomatic because the underlying genetic defect cannot be corrected as of 2015.
    source quote
    The main treatment is symptomatic, since the underlying genetic defect cannot be corrected as of 2015.
  • Symptomatic treatment is surgical.
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    Symptomatic treatment is surgical.
Red flags
  • Type 1 BPES can cause premature ovarian insufficiency and infertility in females as young as 15.
    source quote
    premature ovarian insufficiency (POI) in females, which causes menopausal symptoms and infertility in patients as young as 15 years old
  • A small percentage of patients may have a systematic disorder in addition to blepharophimosis.
    source quote
    A small percentage of patients tend to have a systematic disorder in addition to blepharophimosis.
AI-synthesized from the Wikipedia article “Blepharophimosis, ptosis, epicanthus inversus syndrome”. Not medical advice. Verify source →
Blepharophimosis, ptosis, epicanthus inversus syndrome
Other namesBlepharophimosis types 1 and 2
18-year-old female with BPES type 1
This condition is inherited in an autosomal dominant manner.

Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is a rare medical anomaly characterized by the conditions it is named after: blepharophimosis, ptosis and epicanthus inversus. There are two types; type 1 is distinguished from type 2 by including the symptom of premature ovarian insufficiency (POI) in females, which causes menopausal symptoms and infertility in patients as young as 15 years old.[1]

The most prominent symptoms of BPES are horizontally narrow eyes (blepharophimosis), drooping eyelids (ptosis) and a fold of skin running from the side of the nose to the lower eyelid (epicanthus inversus). Other common symptoms include lack of an eyelid fold, an appearance of widely spaced eyes (telecanthus), low nose bridge and ear malformations (including cupping and incomplete development). Rare symptoms include microphthalmos (abnormally small eyes), tear ducts in the wrong location and a high-arched palate.[1] Type 1 BPES is distinguished by including premature ovarian insufficiency (POI) in females, which causes menopausal symptoms and infertility in patients as young as 15 years old.[1] Type 2 is identified by the development of an abnormal eyelid and no infertility in either men or women.[2]

BPES is caused by a mutation in the gene FOXL2, located at 3q23 (band 23 on the long arm of chromosome 3). There are two types, caused by different mutations in this gene, but both follow an autosomal dominant pattern of inheritance. [1]

Though BPES can be suggested by the presence of blepharophimosis, ptosis and/or epicanthus inversus, it can only be definitively diagnosed by genetic testing. A small percentage of patients tend to have a systematic disorder in addition to blepharophimosis.[3] Other disorders that appear similar include Waardenburg syndrome and Ohdo blepharophimosis syndrome.[1]

The main treatment is symptomatic, since the underlying genetic defect cannot be corrected as of 2015. Symptomatic treatment is surgical.[1]

BPES is rare as it only appears in 1 in 50,000 individuals.[4] It affects slightly more males than females.[1]

Notable patients who have BPES include:

  1. 1 2 3 4 5 6 7 "Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2015-10-30.
  2. ↑ De Baere, Elfride; Beysen, Diane; Oley, Christine; Lorenz, Birgit; Cocquet, Julie; De Sutter, Paul; Devriendt, Koen; Dixon, Michael; Fellous, Marc; Fryns, Jean-Pierre; Garza, Arturo; Jonsrud, Christoffer; Krause, Amanda (2003). "FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation". American Journal of Human Genetics. 72 (2): 478–487. doi:10.1086/346118. PMC 379240. PMID 12529855.
  3. ↑ Landau Prat, Daphna; Nguyen, Brian; Strong, Alanna; Katowitz, William; Katowitz, James (July 2021). ""Blepharophimosis-plus" syndromes: Frequency of systemic genetic disorders that also include blepharophimosis". Clinical & Experimental Ophthalmology. 49 (5): 448–453. doi:10.1111/ceo.13933 – via EBSCO.
  4. ↑ Zhao, Mingyu; Meng, Xiaolu; Wang, Jiaqi; Wang, Tailing (February 2024). "Novel FOXL2 variants in two Chinese families with blepharophimosis, ptosis, and epicanthus inversus syndrome". Frontiers in Genetics. 15 1343411. doi:10.3389/fgene.2024.1343411. PMC 10894958. PMID 38410153.