Overview
Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome is an extremely rare genetic condition that affects multiple body systems from birth. The name describes its main features: anophthalmia (absence of one or both eyes), megalocornea (an abnormally large cornea in the eye that is present), heart defects (cardiopathy), and problems with bone and skeletal development. This syndrome is sometimes referred to by its Orphanet designation OMCS syndrome. Babies born with this condition typically show obvious eye abnormalities at birth, which may include one eye being completely absent while the other eye has an unusually large cornea. Heart defects can range from mild to severe and may include structural problems that affect how blood flows through the heart. Skeletal anomalies can involve abnormalities of the limbs, spine, or other bones, potentially affecting growth and movement. Because this syndrome is so rare, with only a handful of cases described in the medical literature, there is no specific cure or targeted treatment. Management focuses on addressing each symptom individually. This may include surgery for heart defects, prosthetic eyes for cosmetic and developmental purposes, orthopedic care for skeletal problems, and supportive therapies to help with development. A team of specialists working together is essential for providing the best possible care.
Also known as:
Key symptoms:
Absence of one or both eyes (anophthalmia)Abnormally large cornea in the remaining eyeHeart defects present at birthSkeletal and bone abnormalitiesAbnormal limb developmentShort stature or growth delaysJoint problems or limited joint movementPossible vision impairment or blindnessFacial differences related to missing eye(s)Possible developmental delays
Clinical phenotype terms (28)— hover any for plain English
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 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome.
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Specialists
View all specialists →No specialists are currently listed for Anophthalmia-megalocornea-cardiopathy-skeletal anomalies 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 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies 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 is my child's heart defect, and will surgery be needed?,When should we start fitting a prosthetic eye, and how often will it need to be replaced?,What skeletal problems should we watch for as my child grows?,Is genetic testing available to confirm the diagnosis and help with family planning?,What early intervention services should we start right away?,How often will my child need follow-up appointments with each specialist?,Are there any clinical trials or research studies we could participate in?
Common questions about Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
What is Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome?
Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome is an extremely rare genetic condition that affects multiple body systems from birth. The name describes its main features: anophthalmia (absence of one or both eyes), megalocornea (an abnormally large cornea in the eye that is present), heart defects (cardiopathy), and problems with bone and skeletal development. This syndrome is sometimes referred to by its Orphanet designation OMCS syndrome. Babies born with this condition typically show obvious eye abnormalities at birth, which may include one eye being completely absent wh
How is Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome inherited?
Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome typically begin?
Typical onset of Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome is neonatal. Age of onset can vary across affected individuals.