Overview
Colobomatous microphthalmia-heart disease-hearing loss syndrome (also known as Coloboma-congenital heart disease-ichthyosiform dermatosis-mental retardation-ear anomalies syndrome, or sometimes referred to by its Orphanet designation OMIM-related entries) is an extremely rare genetic condition that affects multiple body systems at the same time. The hallmark features include coloboma (a gap or defect in structures of the eye, such as the iris, retina, or optic nerve), microphthalmia (abnormally small eyes), congenital heart defects, and hearing loss. Some individuals may also have skin abnormalities, intellectual disability, and ear malformations. Because the eyes, heart, and ears are all affected, this syndrome can significantly impact a child's vision, cardiovascular health, and ability to hear and communicate. The severity of each feature can vary widely from person to person. Some children may have mild eye findings with more significant heart problems, while others may have profound hearing loss with relatively minor cardiac issues. There is currently no cure for this syndrome. Treatment focuses on managing each individual symptom. This may include surgery for heart defects, hearing aids or cochlear implants for hearing loss, and vision aids or surgical correction for eye abnormalities. Early intervention programs for speech, developmental support, and educational accommodations are important for children affected by this condition. A team of specialists working together provides the best outcomes for patients and families.
Also known as:
Key symptoms:
Abnormally small eyes (microphthalmia)Gaps or defects in eye structures (coloboma)Congenital heart defectsHearing loss or deafnessEar malformations or abnormal ear shapeVision problems or blindnessIntellectual disability or learning difficultiesSkin abnormalities resembling dry, scaly skinDelayed growth and developmentFacial differences or unusual facial featuresSpeech and language delays
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Colobomatous-microphthalmia-heart disease-hearing loss syndrome.
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Specialists
View all specialists →No specialists are currently listed for Colobomatous-microphthalmia-heart disease-hearing loss 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 Colobomatous-microphthalmia-heart disease-hearing loss 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
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 are my child's heart defects, and will surgery be needed?,What type and degree of hearing loss does my child have, and what are the best options for hearing support?,How much vision does my child have, and what can be done to maximize it?,Should we pursue genetic testing, and what might the results tell us?,What early intervention services should we start right away?,Are there any clinical trials or research studies we could participate in?,What is the long-term outlook for my child's development and independence?
Common questions about Colobomatous-microphthalmia-heart disease-hearing loss syndrome
What is Colobomatous-microphthalmia-heart disease-hearing loss syndrome?
Colobomatous microphthalmia-heart disease-hearing loss syndrome (also known as Coloboma-congenital heart disease-ichthyosiform dermatosis-mental retardation-ear anomalies syndrome, or sometimes referred to by its Orphanet designation OMIM-related entries) is an extremely rare genetic condition that affects multiple body systems at the same time. The hallmark features include coloboma (a gap or defect in structures of the eye, such as the iris, retina, or optic nerve), microphthalmia (abnormally small eyes), congenital heart defects, and hearing loss. Some individuals may also have skin abnorma
How is Colobomatous-microphthalmia-heart disease-hearing loss syndrome inherited?
Colobomatous-microphthalmia-heart disease-hearing loss syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Colobomatous-microphthalmia-heart disease-hearing loss syndrome typically begin?
Typical onset of Colobomatous-microphthalmia-heart disease-hearing loss syndrome is neonatal. Age of onset can vary across affected individuals.