What is Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome?
Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome is an extremely rare condition that affects the development of the ears, eyes, and tear drainage system. The name describes its three main features: microtia (underdeveloped or abnormally small ears), eye coloboma (a gap or defect in one or more structures of the eye, such as the iris, retina, or eyelid), and imperforation (blockage) of the nasolacrimal duct, which is the tiny channel that normally drains tears from the eye into the nose. Because these structures all develop during early pregnancy, problems in their formation can occur together. Children born with this syndrome may have hearing difficulties due to the ear malformations, vision problems related to the eye coloboma, and chronic tearing or eye infections because tears cannot drain properly through the blocked nasolacrimal duct. The severity of each feature can vary widely from person to person. There is currently no cure for this syndrome. Treatment focuses on managing each individual symptom. Surgical options may be available to reconstruct the ear, correct eye abnormalities, or open the blocked tear duct. Early diagnosis and a coordinated team of specialists are important to optimize outcomes for hearing, vision, and quality of life. Because this condition is so rare, much of the medical knowledge comes from individual case reports, and families may benefit from connecting with rare disease support networks.
Also known as:
Key symptoms:
Small or underdeveloped ears (microtia)Missing or narrowed ear canalHearing loss or reduced hearingGap or notch in the iris of the eye (coloboma)Gap in other eye structures such as the retina or eyelidVision problems or reduced visionBlocked tear duct causing excessive tearingFrequent eye infections due to poor tear drainageWatery eyes (epiphora)Possible facial asymmetry
Clinical phenotype terms (4)— hover any for plain English
- Lacrimal duct atresiaHP:0000564
- 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)
Treatments
Source: openFDA + DailyMed · NDA / BLA labels with structured indications · refreshed weekly
No FDA-approved treatments are currently listed for Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome.
View clinical trials →Clinical Trials
View all trials with filters →Source: ClinicalTrials.gov · synced daily · phases, status, and PI names normalized at ingest
No actively recruiting trials found for Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →Source: NPI Registry + PubMed · trial PI roles cross-referenced with ClinicalTrials.gov · ranked by match score (publications + PI activity + community signal)
No specialists are currently listed for Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome.
Treatment Centers
8 centersSource: NORD Rare Disease Centers + NIH Undiagnosed Diseases Network (UDN) · centers verified active within last 12 months
Children's Hospital Colorado Rare Disease Program ↗
Children's Hospital Colorado
📍 Aurora, CO
👤 Boston Children's Hospital Rare Disease Program
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDBoston Children's Hospital Rare Disease Program ↗
Boston Children's Hospital
📍 Boston, MA
👤 Boston Children's Hospital Rare Disease Program
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
🏨 Children'sAnn & Robert H. Lurie Children's Hospital Genetics ↗
Lurie Children's Hospital
📍 Chicago, IL
👤 Boston Children's Hospital Rare Disease Program
🏥 NORDCincinnati Children's Hospital Medical Center ↗
Cincinnati Children's
📍 Cincinnati, OH
👤 Boston Children's Hospital Rare Disease Program
🏨 Children'sNationwide Children's Hospital Rare Disease Center ↗
Nationwide Children's Hospital
📍 Columbus, OH
👤 Boston Children's Hospital Rare Disease Program
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
Travel Grants
No travel grants are currently matched to Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome.
Community
No community posts yet. Be the first to share your experience with Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome.
Start the conversation →Latest news about Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
Source: PubMed + NIH RePORTER + openFDA + clinical-journal RSS · last 30 days · disease-tagged at ingest by AI extraction with human QC
No recent news articles for Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome.
Follow this condition to be notified when news becomes available.
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 my child's hearing loss, and what are the best options for improving hearing?,What parts of the eye are affected by the coloboma, and how might this impact vision over time?,Is surgery recommended for the blocked tear duct, and when is the best time to do it?,Should we pursue genetic testing, and what could the results tell us about recurrence risk?,What educational supports or therapies should we arrange for our child?,How often should hearing and vision be monitored as my child grows?,Are there any other associated features we should watch for?
Common questions about Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
What is Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome?
Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome is an extremely rare condition that affects the development of the ears, eyes, and tear drainage system. The name describes its three main features: microtia (underdeveloped or abnormally small ears), eye coloboma (a gap or defect in one or more structures of the eye, such as the iris, retina, or eyelid), and imperforation (blockage) of the nasolacrimal duct, which is the tiny channel that normally drains tears from the eye into the nose. Because these structures all develop during early pregnancy, problems in their formati
At what age does Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome typically begin?
Typical onset of Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome is neonatal. Age of onset can vary across affected individuals.
Frequently asked questions about Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
Auto-generated from canonical disease facts (Orphanet, OMIM, ClinicalTrials.gov, openFDA, NPPES). Not a substitute for clinical guidance.
What is Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome?
Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome is a rare disease catalogued in international rare-disease ontologies (Orphanet ORPHA:139450, OMIM 611863). It is typically inherited as variable. Age of onset is generally neonatal. For verified primary sources, see the UniteRare Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome page.
How is Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome inherited?
Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome follows variable inheritance. Genetic counseling is recommended for affected families to understand recurrence risk in offspring and the likelihood of unaffected siblings being carriers. Variants in the underlying gene(s) may be identified via clinical genetic testing.
Are there FDA-approved treatments for Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome?
Approved treatments for Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome are tracked from openFDA and DailyMed primary sources. Many rare diseases have no specific FDA-approved therapy; for those, supportive care and management of complications form the basis of clinical care. Orphan-drug-designation status is noted where applicable.
Are there clinical trials for Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome?
Active clinical trials for Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome are tracked daily from ClinicalTrials.gov. Trial availability changes frequently; check the UniteRare trial listings for the current count and recruitment status. Sponsors of rare-disease research often welcome inquiries even when a trial is not actively recruiting at a given moment.
How do I find a specialist for Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome?
Verified Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome specialists are identified through ClinicalTrials.gov principal-investigator records, peer-reviewed publication authorship (via PubMed), and the NPPES NPI registry. NORD-designated Centers of Excellence and NIH-affiliated rare-disease clinics are also tracked. UniteRare's specialist directory is updated continuously as new evidence becomes available.
See full Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome page for complete clinical details, sources, and verified-specialist listings.
Cite this page
Select a citation format above to view and copy.