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.
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Tarsal kink syndrome.
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Specialists
View all specialists →No specialists are currently listed for Tarsal kink syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA 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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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.