Living with Short tarsus-absence of lower eyelashes syndrome
A very rare genetic condition that affects the eyelids, causing thin, short lids and missing lower eyelashes.
Understanding Short tarsus-absence of lower eyelashes syndrome
People have thin and short tarsus (the firm plate inside each eyelid) in both upper and lower eyelids. The lower eyelashes are missing. Signs start in the newborn and infant period.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on its summary, features include:
- Thin, short eyelid plates (tarsus)
- Missing lower eyelashes
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition, but it doesn't list a gene. It is inherited in an autosomal dominant pattern, meaning one changed copy of a gene is enough.
Also known as: lopes gorlin syndrome; lopes-gorlin syndrome; short tarsus absence of lower eyelashes; short tarsus with absence of lower eyelashes; short tarsus with absence of lower eyelashes syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Short tarsus-absence of lower eyelashes syndrome.
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