OBSOLETE: Canthal anomaly

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ORPHA:98572
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Overview

Canthal anomaly is a term that was previously used in medical classification systems to describe abnormalities involving the canthi — the corners where the upper and lower eyelids meet on each side of the eye. This term has been marked as 'OBSOLETE' in the Orphanet rare disease database, meaning it is no longer used as a standalone diagnosis. Instead, specific canthal anomalies are now classified under more precise diagnostic terms. Canthal anomalies can include conditions such as telecanthus (increased distance between the inner corners of the eyes), dystopia canthorum (lateral displacement of the inner canthi), or epicanthus (skin folds covering the inner corners of the eyes). These features can occur in isolation or as part of broader genetic syndromes such as Waardenburg syndrome, blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), or other craniofacial conditions. Because this term is obsolete, patients who were previously given this label should work with their doctors to obtain a more specific and current diagnosis. Treatment depends entirely on the underlying condition and may range from no treatment needed to surgical correction of the eyelid or canthal structures. A clinical geneticist or ophthalmologist can help determine the exact nature of the canthal anomaly and whether it is part of a larger syndrome.

Key symptoms:

Abnormal spacing between the inner corners of the eyesSkin folds covering the inner corners of the eyesEyes appearing widely spacedUnusual shape or position of the eyelid cornersFlattened nasal bridge appearanceDifficulty with tear drainageCosmetic differences around the eye area

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)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Canthal anomaly.

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No actively recruiting trials found for OBSOLETE: Canthal anomaly at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the OBSOLETE: Canthal anomaly community →

No specialists are currently listed for OBSOLETE: Canthal anomaly.

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 OBSOLETE: Canthal anomaly.

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Community

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Latest news about OBSOLETE: Canthal anomaly

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Caregiver Resources

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Mental Health Support

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Family & Caregiver Grants

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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.Is this canthal anomaly an isolated finding or could it be part of a genetic syndrome?,Should my child have genetic testing to look for an underlying cause?,Is the canthal anomaly affecting my child's vision or tear drainage?,Would surgical correction be recommended, and if so, at what age?,Are there other specialists we should see?,What is the updated diagnosis now that 'canthal anomaly' is an obsolete term?,Could this condition be passed on to future children?

Common questions about OBSOLETE: Canthal anomaly

What is OBSOLETE: Canthal anomaly?

Canthal anomaly is a term that was previously used in medical classification systems to describe abnormalities involving the canthi — the corners where the upper and lower eyelids meet on each side of the eye. This term has been marked as 'OBSOLETE' in the Orphanet rare disease database, meaning it is no longer used as a standalone diagnosis. Instead, specific canthal anomalies are now classified under more precise diagnostic terms. Canthal anomalies can include conditions such as telecanthus (increased distance between the inner corners of the eyes), dystopia canthorum (lateral displacement

At what age does OBSOLETE: Canthal anomaly typically begin?

Typical onset of OBSOLETE: Canthal anomaly is neonatal. Age of onset can vary across affected individuals.