1

Which are the symptoms of BPES - Blepharophimosis Ptosis Epicanthus Inversus Syndrome?

See the worst symptoms of affected by BPES - Blepharophimosis Ptosis Epicanthus Inversus Syndrome here

BPES - Blepharophimosis Ptosis Epicanthus Inversus Syndrome symptoms

Symptoms of BPES - Blepharophimosis Ptosis Epicanthus Inversus Syndrome


Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) is a rare genetic disorder that primarily affects the development of the eyelids and can also have other associated features. It is characterized by a combination of four main symptoms: blepharophimosis, ptosis, epicanthus inversus, and telecanthus. These symptoms can vary in severity among affected individuals.



1. Blepharophimosis:


Blepharophimosis refers to the narrowing of the palpebral fissure, which is the opening between the upper and lower eyelids. Individuals with BPES have a reduced width of this opening, giving the eyes a narrow appearance. This can affect the overall functionality of the eyelids, including their ability to fully open and close.



2. Ptosis:


Ptosis is the medical term for drooping of the upper eyelid. In BPES, individuals typically have bilateral ptosis, meaning both upper eyelids are affected. The severity of ptosis can vary, ranging from mild drooping to a complete covering of the pupil. Ptosis can impair vision and may require surgical intervention to improve eyelid function.



3. Epicanthus Inversus:


Epicanthus inversus is a condition where a fold of skin extends from the upper eyelid and covers the inner corner of the eye. This inwardly directed fold can give the appearance of the inner corners of the eyes being closer together than usual. Epicanthus inversus is a common feature in individuals with BPES and can contribute to the characteristic appearance of the syndrome.



4. Telecanthus:


Telecanthus refers to an increased distance between the inner corners of the eyes. In BPES, individuals often have a wider nasal bridge, which can cause the eyes to be spaced further apart. This feature, combined with epicanthus inversus, can give the appearance of widely set eyes.



Other Associated Features:


In addition to the main symptoms mentioned above, individuals with BPES may also exhibit other associated features, although these are not always present:




  • Infertility: Some individuals with BPES may experience infertility due to abnormalities in the development of reproductive organs.

  • Malformed ears: Some individuals may have abnormal ear shape or structure.

  • Cleft palate: In rare cases, individuals with BPES may have a cleft palate, which is a split or opening in the roof of the mouth.

  • Intellectual disability: While not a universal feature, some individuals with BPES may have intellectual disability or developmental delays.



It is important to note that the severity and combination of symptoms can vary widely among individuals with BPES. Some individuals may only exhibit mild manifestations, while others may have more pronounced features.



Genetics of BPES:


BPES is typically inherited in an autosomal dominant manner, meaning an affected individual has a 50% chance of passing the condition on to each of their children. The syndrome is associated with mutations in two genes: FOXL2 and BMP4. These genes play crucial roles in the development of various tissues, including the eyelids and reproductive organs.



Diagnosis of BPES is usually based on clinical evaluation, including a thorough examination of the eyelids and associated features. Genetic testing can confirm the presence of mutations in the FOXL2 or BMP4 genes, further supporting the diagnosis.



Treatment and Management:


Management of BPES primarily focuses on addressing the functional and cosmetic concerns associated with the syndrome. Treatment options may include:




  • Eyelid surgery: Surgical intervention can be performed to correct ptosis and improve eyelid function.

  • Genetic counseling: Individuals with BPES and their families may benefit from genetic counseling to understand the inheritance pattern and potential risks for future generations.

  • Hormone therapy: In cases where infertility is a concern, hormone therapy or assisted reproductive techniques may be considered.

  • Supportive care: Individuals with BPES may benefit from ongoing multidisciplinary care, including regular eye examinations, vision correction, and support for associated features such as intellectual disability.



Early intervention and appropriate management can help individuals with BPES lead fulfilling lives and address any functional or cosmetic challenges associated with the syndrome.


Diseasemaps
1 answer

BPES - Blepharophimosis Ptosis Epicanthus Inversus Syndrome symptoms

BPES - Blepharophimosis Ptosis Epicanthus Inversus Syndrome life expectancy

What is the life expectancy of someone with BPES - Blepharophimosis Ptosis ...

2 answers
Celebrities with BPES - Blepharophimosis Ptosis Epicanthus Inversus Syndrome

Celebrities with BPES - Blepharophimosis Ptosis Epicanthus Inversus Syndrom...

1 answer
Is BPES - Blepharophimosis Ptosis Epicanthus Inversus Syndrome hereditary?

Is BPES - Blepharophimosis Ptosis Epicanthus Inversus Syndrome hereditary?

2 answers
Is BPES - Blepharophimosis Ptosis Epicanthus Inversus Syndrome contagious?

Is BPES - Blepharophimosis Ptosis Epicanthus Inversus Syndrome contagious?

2 answers
Natural treatment of BPES - Blepharophimosis Ptosis Epicanthus Inversus Syndrome

Is there any natural treatment for BPES - Blepharophimosis Ptosis Epicanthu...

1 answer
ICD9 and ICD10 codes of BPES - Blepharophimosis Ptosis Epicanthus Inversus Syndrome

ICD10 code of BPES - Blepharophimosis Ptosis Epicanthus Inversus Syndrome a...

2 answers
Living with BPES - Blepharophimosis Ptosis Epicanthus Inversus Syndrome

Living with BPES - Blepharophimosis Ptosis Epicanthus Inversus Syndrome. Ho...

1 answer
BPES - Blepharophimosis Ptosis Epicanthus Inversus Syndrome diet

BPES - Blepharophimosis Ptosis Epicanthus Inversus Syndrome diet. Is there ...

1 answer

World map of BPES - Blepharophimosis Ptosis Epicanthus Inversus Syndrome

Find people with BPES - Blepharophimosis Ptosis Epicanthus Inversus Syndrome through the map. Connect with them and share experiences. Join the BPES - Blepharophimosis Ptosis Epicanthus Inversus Syndrome community.

Stories of BPES - Blepharophimosis Ptosis Epicanthus Inversus Syndrome

BPES - BLEPHAROPHIMOSIS PTOSIS EPICANTHUS INVERSUS SYNDROME STORIES
BPES - Blepharophimosis Ptosis Epicanthus Inversus Syndrome stories
Hello, 4 years ago (2017) our daughter Ninte was born with closed eyes. After a lot of tests we heared the diagnose of BPES. There are 2 types of BPES but Ninte didn't matched any of those two types. It is a type of BPES that still is not know ...

Tell your story and help others

Tell my story

BPES - Blepharophimosis Ptosis Epicanthus Inversus Syndrome forum

BPES - BLEPHAROPHIMOSIS PTOSIS EPICANTHUS INVERSUS SYNDROME FORUM

Ask a question and get answers from other users.

Ask a question

Find your symptoms soulmates

From now on you can add your symptoms in diseasemaps and find your symptoms soulmates. Symptoms soulmates are people with similar symptoms to you.

Symptoms soulmates

Add your symptoms and discover your soulmates map

Soulmates map