Overview
Brain malformation-congenital heart disease-postaxial polydactyly syndrome is a rare condition present from birth that affects several parts of the body at the same time. It is sometimes called BMCHP syndrome. The three main features are structural problems in the brain, heart defects that are present at birth, and extra fingers or toes on the outer (pinky) side of the hands or feet — a feature called postaxial polydactyly. Because the brain, heart, and limbs are all affected, this is considered a multi-system condition. Children born with this syndrome may have a wide range of symptoms depending on how severely each organ system is affected. Brain malformations can lead to intellectual disability, developmental delays, seizures, and problems with muscle tone. Heart defects vary but can be serious and may require surgery shortly after birth. The extra digits on the hands or feet are usually the most visible sign and are often noticed immediately at delivery. There is currently no cure for this syndrome. Treatment focuses on managing each symptom separately. Heart defects may be repaired through surgery. Seizures can often be controlled with medication. Children typically need ongoing support from a team of specialists, as well as physical, occupational, and speech therapy to help them reach their full potential.
Also known as:
Key symptoms:
Extra fingers or toes on the outer (pinky) side of the hand or footStructural brain abnormalities present from birthHeart defects present from birthIntellectual disability or learning difficultiesDevelopmental delays (sitting, walking, talking later than expected)Seizures or epilepsyLow or unusually high muscle toneSmall head size (microcephaly) in some casesFeeding difficulties in infancyVision or eye problems in some casesBreathing difficulties related to heart or brain problems
Clinical phenotype terms (24)— 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
1 availableXARELTO
for thromboprophylaxis in pediatric patients 2 years and older with congenital heart disease after the Fontan procedure
Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for Brain malformation-congenital heart disease-postaxial polydactyly 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 Brain malformation-congenital heart disease-postaxial polydactyly 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.Which specific brain malformation does my child have, and what does that mean for their development?,Does my child's heart defect need surgery, and if so, when?,Should we have genetic testing done, and what type of test is most likely to find the cause?,What early intervention therapies should we start right away?,What signs should prompt me to go to the emergency room?,Are there any clinical trials or research studies we could participate in?,What support services or patient organizations are available for families dealing with this condition?
Common questions about Brain malformation-congenital heart disease-postaxial polydactyly syndrome
What is Brain malformation-congenital heart disease-postaxial polydactyly syndrome?
Brain malformation-congenital heart disease-postaxial polydactyly syndrome is a rare condition present from birth that affects several parts of the body at the same time. It is sometimes called BMCHP syndrome. The three main features are structural problems in the brain, heart defects that are present at birth, and extra fingers or toes on the outer (pinky) side of the hands or feet — a feature called postaxial polydactyly. Because the brain, heart, and limbs are all affected, this is considered a multi-system condition. Children born with this syndrome may have a wide range of symptoms depen
How is Brain malformation-congenital heart disease-postaxial polydactyly syndrome inherited?
Brain malformation-congenital heart disease-postaxial polydactyly syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Brain malformation-congenital heart disease-postaxial polydactyly syndrome typically begin?
Typical onset of Brain malformation-congenital heart disease-postaxial polydactyly syndrome is neonatal. Age of onset can vary across affected individuals.