Living with Syndromic orbital border hypoplasia
A very rare condition present at birth in which the bony rim of the eye socket and tear drainage are underdeveloped.
Understanding Syndromic orbital border hypoplasia
The edge of the eye socket may be missing. There are varying differences in the tear drainage passages, the eyelid skin and plates are underdeveloped, and the tear duct is blocked (nasolacrimal duct atresia). Signs are present in the newborn period.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes:
- Missing bony rim of the eye socket
- Differences in tear drainage passages
- Underdeveloped eyelid skin and plates
- Blocked tear duct
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 eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); 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
Changes in genes (variants) cause this condition. It is autosomal dominant, meaning one changed copy of a gene can cause it. GARD doesn't list which gene.
Also known as: orbital margin, hypoplasia of; urrets-zavalia 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 Syndromic orbital border hypoplasia.
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