Overview
Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a very rare condition that affects both the eyes and the skeleton. 'Microphthalmia' means one or both eyes are unusually small, and 'coloboma' refers to a gap or hole in part of the eye structure, such as the iris, retina, or optic nerve. These eye problems are present from birth and can cause significant vision impairment or even blindness. 'Rhizomelic dysplasia' means that the bones closest to the body — the upper arms and upper legs — are shorter than normal, leading to a distinctive body shape and sometimes limited movement. This syndrome is considered a multi-system condition because it affects both vision and bone development at the same time. Children born with this syndrome may also have other features such as a small head size, facial differences, or developmental delays, though the exact combination of symptoms can vary from person to person. Because this condition is extremely rare, treatment focuses on managing individual symptoms rather than curing the underlying cause. Eye specialists, orthopedic doctors, and developmental therapists all play important roles in supporting affected individuals. Early intervention with vision support and physical therapy can make a meaningful difference in quality of life.
Also known as:
Key symptoms:
Unusually small eyes (microphthalmia) present at birthGap or missing tissue in part of the eye (coloboma)Reduced vision or blindnessShorter upper arm and upper leg bones (rhizomelic shortening)Small head size (microcephaly)Distinctive facial featuresDevelopmental delaysPossible intellectual disabilityLimited range of motion in the arms or legs
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-rhizomelic dysplasia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Colobomatous microphthalmia-rhizomelic dysplasia 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-rhizomelic dysplasia 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.What genetic tests should we do to confirm the diagnosis and find the specific gene involved?,How severe is the vision impairment likely to be, and what can we do to protect and maximize my child's sight?,What therapies do you recommend starting right away to support development?,Are there any complications we should watch for as my child grows?,Should other family members be tested for this condition?,Are there any research studies or registries we can join to help advance understanding of this syndrome?,What school and community resources are available to support a child with this condition?
Common questions about Colobomatous microphthalmia-rhizomelic dysplasia syndrome
What is Colobomatous microphthalmia-rhizomelic dysplasia syndrome?
Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a very rare condition that affects both the eyes and the skeleton. 'Microphthalmia' means one or both eyes are unusually small, and 'coloboma' refers to a gap or hole in part of the eye structure, such as the iris, retina, or optic nerve. These eye problems are present from birth and can cause significant vision impairment or even blindness. 'Rhizomelic dysplasia' means that the bones closest to the body — the upper arms and upper legs — are shorter than normal, leading to a distinctive body shape and sometimes limited movement. Thi
How is Colobomatous microphthalmia-rhizomelic dysplasia syndrome inherited?
Colobomatous microphthalmia-rhizomelic dysplasia syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Colobomatous microphthalmia-rhizomelic dysplasia syndrome typically begin?
Typical onset of Colobomatous microphthalmia-rhizomelic dysplasia syndrome is neonatal. Age of onset can vary across affected individuals.