Overview
Short tarsus-absence of lower eyelashes syndrome is an extremely rare genetic condition that primarily affects the development of the eyelids and surrounding structures. The tarsus is a firm plate of connective tissue that gives the eyelid its shape and structure. In this syndrome, the tarsal plate of the lower eyelid is abnormally short or underdeveloped, and the lower eyelashes are partially or completely absent. These features are typically present from birth. Because the lower eyelid structure is abnormal, affected individuals may experience problems with eye protection and tear drainage. The eyes may be more vulnerable to dryness, irritation, and exposure to dust or debris that the eyelashes would normally help block. Some patients may also have additional eyelid abnormalities such as distichiasis (misdirected eyelashes) or other minor facial differences. The condition falls under the broader category of developmental anomalies involving the eye and face (classified under ICD-10 code Q87.2, which covers congenital malformation syndromes predominantly involving the limbs and face). Treatment is mainly supportive and focused on protecting the eyes. This may include lubricating eye drops, protective eyewear, and in some cases reconstructive eyelid surgery. Because the condition is so rare, management is typically individualized based on the specific features present in each patient.
Also known as:
Key symptoms:
Short or underdeveloped lower eyelid tarsal plateMissing or absent lower eyelashesDry or irritated eyesExcessive tearing or poor tear drainageLower eyelid abnormalitiesEye redness or discomfortSensitivity to wind, dust, or bright lightPossible misdirected eyelashes (distichiasis)
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Short tarsus-absence of lower eyelashes syndrome.
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Specialists
View all specialists →No specialists are currently listed for Short tarsus-absence of lower eyelashes 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 Short tarsus-absence of lower eyelashes syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is the tarsal plate abnormality, and is my child's cornea at risk of damage?,What type of eye drops or ointments should we use, and how often?,Would eyelid surgery be beneficial, and at what age is it best performed?,How often should we schedule eye exams to monitor for complications?,Is genetic testing available to confirm the diagnosis or identify the cause?,What is the chance of passing this condition to future children?,Are there any cosmetic options for the absent eyelashes, such as prosthetic lashes?
Common questions about Short tarsus-absence of lower eyelashes syndrome
What is Short tarsus-absence of lower eyelashes syndrome?
Short tarsus-absence of lower eyelashes syndrome is an extremely rare genetic condition that primarily affects the development of the eyelids and surrounding structures. The tarsus is a firm plate of connective tissue that gives the eyelid its shape and structure. In this syndrome, the tarsal plate of the lower eyelid is abnormally short or underdeveloped, and the lower eyelashes are partially or completely absent. These features are typically present from birth. Because the lower eyelid structure is abnormal, affected individuals may experience problems with eye protection and tear drainage.
How is Short tarsus-absence of lower eyelashes syndrome inherited?
Short tarsus-absence of lower eyelashes syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Short tarsus-absence of lower eyelashes syndrome typically begin?
Typical onset of Short tarsus-absence of lower eyelashes syndrome is neonatal. Age of onset can vary across affected individuals.