Familial congenital nasolacrimal duct obstruction

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ORPHA:451612OMIM:149700Q10.5
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Overview

Familial congenital nasolacrimal duct obstruction (also called familial congenital dacryostenosis) is a rare inherited condition in which the tear drainage system is blocked from birth. Normally, tears drain from the eye through a small channel called the nasolacrimal duct into the nose. In this condition, the duct fails to open properly during fetal development, and because it runs in families, multiple members across generations may be affected. Babies born with this condition typically have excessive tearing (called epiphora) from one or both eyes, starting in the first weeks of life. The tears may pool on the eyelids and overflow down the cheeks. Because tears cannot drain properly, the area around the tear sac can become prone to infection, leading to sticky or crusty discharge, redness, and swelling near the inner corner of the eye. Repeated infections of the tear sac (dacryocystitis) can occur if the blockage is not addressed. While many cases of non-familial congenital nasolacrimal duct obstruction resolve on their own within the first year of life, the familial form may be more persistent and require intervention. Treatment typically starts with conservative measures such as tear sac massage and antibiotic eye drops for infections. If the blockage does not resolve, a minor surgical procedure called probing can be performed to open the duct. In more stubborn cases, balloon dilation or placement of a small silicone tube (intubation) may be needed. Rarely, a surgical procedure called dacryocystorhinostomy (DCR) is required to create a new drainage pathway.

Key symptoms:

Excessive tearing from one or both eyesTears overflowing onto the cheeksSticky or crusty discharge from the eyesMucus buildup at the inner corner of the eyeRedness around the inner corner of the eyeSwelling near the tear sac areaRecurrent eye infectionsTear sac infections (dacryocystitis)Matted eyelashes, especially after sleepWatery eyes that worsen in cold or windy weather

Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Familial congenital nasolacrimal duct obstruction.

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No actively recruiting trials found for Familial congenital nasolacrimal duct obstruction at this time.

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No specialists are currently listed for Familial congenital nasolacrimal duct obstruction.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Familial congenital nasolacrimal duct obstruction.

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Community

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Questions for your doctor

Bring these to your next appointment

  • Q1.Is my child's tear duct blockage likely to resolve on its own, or will a procedure be needed?,How do I properly perform tear sac massage, and how often should I do it?,What signs of infection should I watch for, and when should I seek urgent care?,At what age would you recommend probing or another procedure if the blockage hasn't resolved?,Since this runs in our family, what is the chance that future children will also be affected?,Should we see a geneticist to learn more about the inheritance pattern in our family?,Are there any long-term risks to my child's vision from this condition?

Common questions about Familial congenital nasolacrimal duct obstruction

What is Familial congenital nasolacrimal duct obstruction?

Familial congenital nasolacrimal duct obstruction (also called familial congenital dacryostenosis) is a rare inherited condition in which the tear drainage system is blocked from birth. Normally, tears drain from the eye through a small channel called the nasolacrimal duct into the nose. In this condition, the duct fails to open properly during fetal development, and because it runs in families, multiple members across generations may be affected. Babies born with this condition typically have excessive tearing (called epiphora) from one or both eyes, starting in the first weeks of life. The

How is Familial congenital nasolacrimal duct obstruction inherited?

Familial congenital nasolacrimal duct obstruction follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Familial congenital nasolacrimal duct obstruction typically begin?

Typical onset of Familial congenital nasolacrimal duct obstruction is neonatal. Age of onset can vary across affected individuals.