Overview
McDonough syndrome is a very rare genetic condition that affects multiple parts of the body, especially the heart, face, and development. It is sometimes called Malpuech-Michels-Mingarelli-Carnevale syndrome or 3MC syndrome when grouped with related conditions, though McDonough syndrome specifically refers to a distinct presentation first described in a small number of families. People with this condition are typically born with certain physical features that are noticeable from birth or early childhood, including a distinctive facial appearance, heart defects, and intellectual disability. The condition affects the body in several ways. Most people have heart problems present at birth (congenital heart defects), delayed development and learning difficulties, and characteristic facial features such as widely spaced eyes, low-set ears, and a broad or flat nasal bridge. Short stature and skeletal differences are also commonly reported. Some individuals may have genital abnormalities. Treatment focuses on managing individual symptoms rather than curing the underlying condition. Heart defects may require surgery or monitoring by a cardiologist. Developmental delays are addressed through early intervention programs, physical therapy, speech therapy, and special education support. Because this syndrome is extremely rare, most of what is known comes from a very small number of reported cases, and ongoing research is limited.
Key symptoms:
Intellectual disability or learning difficultiesCongenital heart defects (heart problems present at birth)Distinctive facial features such as widely spaced eyes and low-set earsShort statureBroad or flat nasal bridgeDelayed development and milestonesSkeletal differences or unusual bone structureGenital abnormalities in some individualsSmall head size (microcephaly) in some casesLow muscle tone (hypotonia)
Clinical phenotype terms (27)— 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 McDonough syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for McDonough syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for McDonough 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 McDonough syndrome.
Community
No community posts yet. Be the first to share your experience with McDonough syndrome.
Start the conversation →Latest news about McDonough syndrome
No recent news articles for McDonough syndrome.
Follow this condition to be notified when news becomes available.
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 testing do you recommend to confirm the diagnosis and identify the specific cause?,Does my child need a heart evaluation, and how serious are any heart defects found?,What early intervention or therapy services should we start right away?,What developmental milestones should we watch for, and when should we be concerned?,Are there other families or support groups for McDonough syndrome or related conditions?,What specialists should be part of my child's care team?,What does the long-term outlook look like, and how can we best support quality of life?
Common questions about McDonough syndrome
What is McDonough syndrome?
McDonough syndrome is a very rare genetic condition that affects multiple parts of the body, especially the heart, face, and development. It is sometimes called Malpuech-Michels-Mingarelli-Carnevale syndrome or 3MC syndrome when grouped with related conditions, though McDonough syndrome specifically refers to a distinct presentation first described in a small number of families. People with this condition are typically born with certain physical features that are noticeable from birth or early childhood, including a distinctive facial appearance, heart defects, and intellectual disability. Th
How is McDonough syndrome inherited?
McDonough syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does McDonough syndrome typically begin?
Typical onset of McDonough syndrome is neonatal. Age of onset can vary across affected individuals.