Overview
Alar cartilages hypoplasia-coloboma-telecanthus syndrome is an extremely rare genetic condition that affects the development of certain facial structures. The name describes its three main features: underdevelopment (hypoplasia) of the alar cartilages (the small pieces of cartilage that shape the sides and tip of the nose), coloboma (a gap or defect in one or more structures of the eye, such as the iris, retina, or eyelid), and telecanthus (an increased distance between the inner corners of the eyes, giving the appearance of widely spaced eyes). Because these features are present from birth, the condition is typically noticed in newborns or early infancy. The underdeveloped nose cartilages can cause the nose to appear flat, small, or unusually shaped, and in some cases may contribute to breathing difficulties. The eye colobomas can range from mild cosmetic differences to more significant vision problems depending on which part of the eye is affected. Telecanthus is primarily a cosmetic concern but can sometimes be associated with other midface developmental differences. Because this syndrome is so rare, there is very limited information about its full range of symptoms, natural history, and underlying genetic cause. Treatment is mainly supportive and symptom-based, potentially including surgical correction of nasal or eyelid abnormalities, vision support, and monitoring of eye health. A multidisciplinary team of specialists is typically involved in care.
Key symptoms:
Small or flat nose due to underdeveloped cartilageUnusually shaped nostrilsGap or notch in the iris of the eye (coloboma)Widely spaced inner corners of the eyes (telecanthus)Possible vision problemsPossible breathing difficulties through the noseEyelid abnormalitiesFlat or broad nasal bridgePossible sensitivity to light if iris coloboma is present
Clinical phenotype terms (7)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Alar cartilages hypoplasia-coloboma-telecanthus syndrome.
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Specialists
View all specialists →No specialists are currently listed for Alar cartilages hypoplasia-coloboma-telecanthus syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Alar cartilages hypoplasia-coloboma-telecanthus syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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 are the eye colobomas, and which structures of the eye are affected?,Will my child's vision be significantly impacted, and what can we do to support it?,Is the nasal cartilage underdevelopment causing any breathing problems?,At what age should we consider surgical options for the nose or eyes?,Should we pursue genetic testing, and what might it tell us?,What is the chance of passing this condition to future children?,How often should we schedule follow-up eye exams and other specialist visits?
Common questions about Alar cartilages hypoplasia-coloboma-telecanthus syndrome
What is Alar cartilages hypoplasia-coloboma-telecanthus syndrome?
Alar cartilages hypoplasia-coloboma-telecanthus syndrome is an extremely rare genetic condition that affects the development of certain facial structures. The name describes its three main features: underdevelopment (hypoplasia) of the alar cartilages (the small pieces of cartilage that shape the sides and tip of the nose), coloboma (a gap or defect in one or more structures of the eye, such as the iris, retina, or eyelid), and telecanthus (an increased distance between the inner corners of the eyes, giving the appearance of widely spaced eyes). Because these features are present from birth, t
How is Alar cartilages hypoplasia-coloboma-telecanthus syndrome inherited?
Alar cartilages hypoplasia-coloboma-telecanthus syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Alar cartilages hypoplasia-coloboma-telecanthus syndrome typically begin?
Typical onset of Alar cartilages hypoplasia-coloboma-telecanthus syndrome is neonatal. Age of onset can vary across affected individuals.