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Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2

Last updated May 2, 2018

Approved by: Krish Tangella MD, MBA, FCAP

Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2, also known simply as Blepharophimosis Syndrome Type 2, is a condition that mainly affects the development of the eyelids.


What are the other Names for this Condition? (Also known as/Synonyms)

  • Blepharophimosis Syndrome Type 2
  • Blepharophimosis, Ptosis, and Epicanthus Inversus without Premature Ovarian Failure
  • BPES without Premature Ovarian Failure

What is Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2? (Definition/Background Information)

  • Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome (BPES) Type 2 is a condition that mainly affects the development of the eyelids. Features include a narrow eye opening (blepharophimosis), drooping of the upper eyelid (ptosis), and upward folding of the skin of the lower eyelid near the inner corner (epicanthus inversus)
  • People with BPES type 2 also have a larger distance between the inner corners of the eyes (telecanthus). These features stop the eyelids from fully opening, which may result in limited vision. In some people with BPES, additional parts of the eyes and/or face may be mildly affected
  • BPES type 2 is caused by mutations in the FOXL2 gene and inheritance is typically autosomal dominant
  • The treatment of Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2 involves various eyelid surgeries to correct the malformations
  • BPES type 2 is distinguished from BPES type 1 by the absence of premature ovarian failure, which only occurs in BPES type 1

(Source: Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2? (Age and Sex Distribution)

  • Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2 is a rare congenital disorder. The presentation of symptoms may occur at birth
  • Both males and females may be affected
  • Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2? (Predisposing Factors)

  • A positive family history may be an important risk factor, since Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2 can be inherited
  • Currently, no other risk factors have been clearly identified for BPES Type 2

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2? (Etiology)

  • Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2 is caused by mutations in the FOXL2 gene 
  • The condition is inherited in an autosomal dominant manner

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2?

The signs and symptoms of Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2 may include the following:

Very frequently present symptoms in 80-99% of the cases:

  • Blepharophimosis
  • Depressed nasal bridge
  • Epicanthus
  • Ptosis

Frequently present symptoms in 30-79% of the cases:

  • Abnormality of the lacrimal duct
  • Myopia
  • Premature ovarian insufficiency

Occasionally present symptoms in 5-29% of the cases:

  • Nystagmus
  • Strabismus
  • Synophrys

Some additional signs and symptoms that may be present in some affected individuals:

  • Abnormality of the breast
  • Abnormality of the hair
  • Amenorrhea
  • Cupped ear
  • Epicanthus inversus
  • Female infertility
  • High palate
  • Hypermetropia
  • Hypoplasia of the uterus
  • Increased circulating gonadotropin level
  • Microcornea
  • Microphthalmia
  • Telecanthus
  • Wide nasal bridge

(Source: Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2 Diagnosed?

Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2 is diagnosed on the basis of the following information:

  • Complete physical examination
  • Thorough medical history evaluation
  • Assessment of signs and symptoms
  • Laboratory tests
  • Imaging studies
  • Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2?

The complications of Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2 may include:

  • Impaired vision due to incomplete opening of eyelids
  • Infertility in affected females, if premature ovarian insufficiency is present
  • Early menopause due to premature ovarian insufficiency

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2 Treated?

  • There is no cure for Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2, since it is a genetic condition
  • The treatment is usually given to manage the signs and symptoms and any complication that develops
  • Surgical repair of eyelids to help the eyelids open properly

How can Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2 be Prevented?

Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2 may not be preventable, since it is a genetic disorder.

  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
  • Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2? (Outcomes/Resolutions)

  • The prognosis of Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2 is good
  • The affected individuals are known to have a normal lifespan 

Additional and Relevant Useful Information for Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/

What are some Useful Resources for Additional Information?


References and Information Sources used for the Article:


Helpful Peer-Reviewed Medical Articles:


Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: May 2, 2018
Last updated: May 2, 2018