Tarsal kink syndrome

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ORPHA:99170Q10.3
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Overview

Tarsal kink syndrome, also known as congenital tarsal kink, is a rare congenital anomaly of the eyelids classified under other congenital malformations of the eyelid (ICD-10: Q10.3). This condition is characterized by a horizontal fold or kink of the upper eyelid tarsal plate that is present at birth. The tarsal plate is the firm connective tissue structure that gives the eyelid its shape and support. In tarsal kink syndrome, this plate is abnormally folded inward, causing the upper eyelid to appear deformed, often with the eyelid margin turning inward (entropion) or the eyelashes directed toward the eye surface. This can lead to corneal irritation, excessive tearing, and potential corneal damage if left untreated. The condition primarily affects the ocular and periocular structures. Affected newborns typically present with an obvious eyelid abnormality at birth, which may be unilateral or bilateral. The inward folding of the tarsal plate can cause the eyelid to assume an S-shaped configuration. In many cases, the condition resolves spontaneously within the first weeks to months of life as the tarsal plate matures and stiffens. Conservative management with lubricating eye drops or ointments to protect the cornea is often sufficient during this period. In persistent or severe cases where corneal damage is a concern, surgical correction may be required to restore normal eyelid anatomy and protect the ocular surface. Early ophthalmological evaluation is recommended to monitor for corneal complications.

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Tarsal kink syndrome.

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No actively recruiting trials found for Tarsal kink syndrome at this time.

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No specialists are currently listed for Tarsal kink syndrome.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Tarsal kink syndrome.

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Community

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Common questions about Tarsal kink syndrome

What is Tarsal kink syndrome?

Tarsal kink syndrome, also known as congenital tarsal kink, is a rare congenital anomaly of the eyelids classified under other congenital malformations of the eyelid (ICD-10: Q10.3). This condition is characterized by a horizontal fold or kink of the upper eyelid tarsal plate that is present at birth. The tarsal plate is the firm connective tissue structure that gives the eyelid its shape and support. In tarsal kink syndrome, this plate is abnormally folded inward, causing the upper eyelid to appear deformed, often with the eyelid margin turning inward (entropion) or the eyelashes directed tow

At what age does Tarsal kink syndrome typically begin?

Typical onset of Tarsal kink syndrome is neonatal. Age of onset can vary across affected individuals.