Epiblepharon

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ORPHA:99169Q10.3
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15Specialists8Treatment centers

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Epiblepharon is a congenital eyelid condition in which a horizontal fold of redundant skin and underlying orbicularis oculi muscle pushes the eyelashes inward toward the eye (globe). It most commonly affects the lower eyelids, though the upper eyelids can also be involved. The condition is particularly prevalent among children of East Asian descent and is typically present from birth. Epiblepharon should be distinguished from congenital entropion, in which the entire eyelid margin turns inward; in epiblepharon, the eyelid margin itself remains in a normal position, but the overriding skin fold directs the lashes against the cornea and conjunctiva. The primary symptoms result from the misdirected eyelashes (pseudotrichiasis) contacting the ocular surface. Patients may experience tearing (epiphora), eye irritation, foreign body sensation, photophobia, and chronic eye rubbing. In more severe or persistent cases, the constant contact of lashes against the cornea can lead to punctate corneal erosions, corneal abrasions, and in rare instances, corneal scarring or astigmatism that may affect vision. Many mild cases in young children resolve spontaneously as the facial structures grow and mature, particularly with development of the nasal bridge and redistribution of periorbital soft tissue. Management depends on the severity of symptoms and corneal involvement. In mild cases, conservative treatment with lubricating eye drops or ointments may be sufficient to protect the corneal surface while awaiting spontaneous resolution with facial growth. When significant corneal damage is present or symptoms persist beyond early childhood, surgical correction is recommended. The most common surgical approach involves excision of a strip of skin and orbicularis muscle from the affected eyelid (modified Hotz procedure or similar techniques), which effectively redirects the eyelashes away from the globe. Surgical outcomes are generally excellent with low recurrence rates.

Inheritance

Multifactorial

Caused by a mix of several genes and environmental factors

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Epiblepharon.

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No actively recruiting trials found for Epiblepharon at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Epiblepharon community →

Specialists

15 foundView all specialists →
YH
Yuanyuan Han
Specialist
1 Epiblepharon publication
JY
Jimin Youn
Specialist
2 Epiblepharon publications
SB
Sehyun Baek
Specialist
2 Epiblepharon publications
NM
Nozomi Matsumura
Specialist
2 Epiblepharon publications
MA
Mizuki Asano
Specialist
2 Epiblepharon publications
TO
Tomoko Ohno
Specialist
2 Epiblepharon publications
NM
Nobuhisa Mizuki
Specialist
2 Epiblepharon publications
NK
Namju Kim
ALLEN, TX
Specialist
2 Epiblepharon publications
BK
Bo Ram Kim
Specialist
2 Epiblepharon publications
YS
Yuri Seo
Specialist
2 Epiblepharon publications
HL
Hyun Jung Lee
Specialist
2 Epiblepharon publications
SC
So-Hyang Chung
Specialist
2 Epiblepharon publications
JY
Jin Sook Yoon
Specialist
2 Epiblepharon publications
SH
Shishu Huang
Specialist
1 Epiblepharon publication
HL
Hyunkyu Lee
SEATTLE, WA
Specialist
2 Epiblepharon publications

Treatment Centers

8 centers
🏨 Children's

Children's Hospital Colorado Rare Disease Program

Children's Hospital Colorado

📍 Aurora, CO

👤 Boston Children's Hospital Rare Disease Program

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Boston Children's Hospital Rare Disease Program

Boston Children's Hospital

📍 Boston, MA

👤 Boston Children's Hospital Rare Disease Program

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

🏨 Children's

Ann & Robert H. Lurie Children's Hospital Genetics

Lurie Children's Hospital

📍 Chicago, IL

👤 Boston Children's Hospital Rare Disease Program

🏥 NORD

Cincinnati Children's Hospital Medical Center

Cincinnati Children's

📍 Cincinnati, OH

👤 Boston Children's Hospital Rare Disease Program

🏨 Children's

Nationwide Children's Hospital Rare Disease Center

Nationwide Children's Hospital

📍 Columbus, OH

👤 Boston Children's Hospital Rare Disease Program

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

Travel Grants

No travel grants are currently matched to Epiblepharon.

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Community

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Latest news about Epiblepharon

No recent news articles for Epiblepharon.

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

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Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Common questions about Epiblepharon

What is Epiblepharon?

Epiblepharon is a congenital eyelid condition in which a horizontal fold of redundant skin and underlying orbicularis oculi muscle pushes the eyelashes inward toward the eye (globe). It most commonly affects the lower eyelids, though the upper eyelids can also be involved. The condition is particularly prevalent among children of East Asian descent and is typically present from birth. Epiblepharon should be distinguished from congenital entropion, in which the entire eyelid margin turns inward; in epiblepharon, the eyelid margin itself remains in a normal position, but the overriding skin fold

How is Epiblepharon inherited?

Epiblepharon follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Epiblepharon typically begin?

Typical onset of Epiblepharon is neonatal. Age of onset can vary across affected individuals.

Which specialists treat Epiblepharon?

15 specialists and care centers treating Epiblepharon are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.