Overview
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is an extremely rare genetic condition that affects multiple parts of the body. The name describes its main features: brachydactyly (shortened fingers and toes), mesomelia (shortening of the middle segments of the arms and legs, meaning the forearms and lower legs are shorter than expected), intellectual disability, and heart defects present from birth. This syndrome is sometimes referred to as Albright-like syndrome or has been described under various case reports in the medical literature. People with this condition typically show signs from birth or early infancy. The skeletal abnormalities are usually noticeable early on, with short stature being common. Heart defects can range from mild to severe and may require surgical correction. Intellectual disability can vary in degree but often affects learning and daily functioning. Some individuals may also have distinctive facial features and other skeletal differences. Because this syndrome is so rare, there is no specific cure or targeted treatment. Management focuses on addressing each symptom individually. Heart defects may need surgical repair, educational support can help with intellectual challenges, and orthopedic care may be needed for bone and limb differences. A team of specialists working together provides the best care for affected individuals.
Also known as:
Key symptoms:
Shortened fingers and toesShort forearms and lower legsIntellectual disability or learning difficultiesHeart defects present from birthShort statureDistinctive facial featuresDelayed developmental milestonesBone and skeletal abnormalitiesPossible speech delaysLimited range of motion in joints
Clinical phenotype terms (11)— 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 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome.
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Specialists
View all specialists →No specialists are currently listed for Brachydactyly-mesomelia-intellectual disability-heart defects 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 Brachydactyly-mesomelia-intellectual disability-heart defects 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 type of heart defect does my child have, and does it need surgery?,What level of intellectual disability should we expect, and what therapies are recommended?,Should we pursue genetic testing, and what might the results tell us?,How often should my child have follow-up appointments with each specialist?,Are there any physical activities my child should avoid because of their heart condition?,What early intervention services should we start right away?,What is the chance that future children could also have this condition?
Common questions about Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
What is Brachydactyly-mesomelia-intellectual disability-heart defects syndrome?
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is an extremely rare genetic condition that affects multiple parts of the body. The name describes its main features: brachydactyly (shortened fingers and toes), mesomelia (shortening of the middle segments of the arms and legs, meaning the forearms and lower legs are shorter than expected), intellectual disability, and heart defects present from birth. This syndrome is sometimes referred to as Albright-like syndrome or has been described under various case reports in the medical literature. People with this condition typi
How is Brachydactyly-mesomelia-intellectual disability-heart defects syndrome inherited?
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Brachydactyly-mesomelia-intellectual disability-heart defects syndrome typically begin?
Typical onset of Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is neonatal. Age of onset can vary across affected individuals.