Overview
Coloboma of macula-brachydactyly type B syndrome is an extremely rare genetic condition that combines two main features: a gap or defect in the macula (the central part of the retina responsible for sharp, detailed vision) and brachydactyly type B (shortened fingers and toes, particularly affecting the tips of the fingers). The coloboma of the macula is present from birth and results from incomplete development of the eye during early pregnancy. This eye defect typically causes reduced central vision, which can range from mild to severe depending on the size and location of the coloboma. The brachydactyly type B component involves shortening or absence of the end bones (distal phalanges) of the fingers and toes, and sometimes the middle bones as well. The thumbs and big toes may also be broad or duplicated in some cases. Because this syndrome affects both the eyes and the hands and feet, it is classified as a multi-system developmental condition. There is currently no cure for this syndrome. Treatment focuses on managing symptoms, including vision aids and corrective lenses for the eye problems, and in some cases orthopedic interventions for hand or foot abnormalities. Early diagnosis and coordinated care between eye specialists and hand specialists can help optimize function and quality of life.
Also known as:
Key symptoms:
Reduced central vision from birthGap or defect in the center of the retina (macular coloboma)Shortened fingertips or missing end bones of fingersShortened toes or missing end bones of toesBroad or duplicated thumbsBroad or duplicated big toesDifficulty with fine motor tasks due to short fingersNystagmus (involuntary eye movements) in some casesAbnormal nail development on affected fingers or toes
Clinical phenotype terms (9)— 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 Coloboma of macula-brachydactyly type B syndrome.
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Specialists
View all specialists →No specialists are currently listed for Coloboma of macula-brachydactyly type B 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 Coloboma of macula-brachydactyly type B syndrome.
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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 the macular coloboma and how much vision is affected?,Are there any additional eye problems we should watch for?,Would my child benefit from occupational therapy for hand function?,What visual aids or assistive technology would be most helpful?,Should we pursue genetic testing, and what would the results mean for our family?,Is there a risk of this condition being passed on to future children?,Are there any clinical trials or new research relevant to this condition?
Common questions about Coloboma of macula-brachydactyly type B syndrome
What is Coloboma of macula-brachydactyly type B syndrome?
Coloboma of macula-brachydactyly type B syndrome is an extremely rare genetic condition that combines two main features: a gap or defect in the macula (the central part of the retina responsible for sharp, detailed vision) and brachydactyly type B (shortened fingers and toes, particularly affecting the tips of the fingers). The coloboma of the macula is present from birth and results from incomplete development of the eye during early pregnancy. This eye defect typically causes reduced central vision, which can range from mild to severe depending on the size and location of the coloboma. The b
How is Coloboma of macula-brachydactyly type B syndrome inherited?
Coloboma of macula-brachydactyly type B syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Coloboma of macula-brachydactyly type B syndrome typically begin?
Typical onset of Coloboma of macula-brachydactyly type B syndrome is neonatal. Age of onset can vary across affected individuals.