Overview
Hunter-Carpenter-McDonald syndrome is an extremely rare genetic condition that affects multiple body systems. It is also sometimes referred to by its Orphanet code 2174. The syndrome is characterized by a combination of physical and developmental features that can vary from person to person. Key features typically include intellectual disability, distinctive facial features, and abnormalities affecting the skeleton and connective tissues. Some individuals may also experience problems with their heart, vision, or hearing. Because this syndrome is so rare, much of what is known comes from a very small number of reported cases in the medical literature. The exact underlying genetic cause has not been fully established in all cases, which makes diagnosis challenging. There is currently no cure for Hunter-Carpenter-McDonald syndrome, and treatment focuses on managing individual symptoms and supporting development through therapies such as speech, occupational, and physical therapy. Families affected by this condition often work closely with a team of specialists to address each person's unique needs. Early intervention and supportive care can make a meaningful difference in quality of life and developmental outcomes.
Key symptoms:
Intellectual disability or learning difficultiesDistinctive facial featuresShort statureSkeletal abnormalities such as unusual bone shape or joint problemsDelayed development of speech and languageDelayed motor milestones such as sitting or walkingPossible heart defectsVision problemsHearing difficultiesLow muscle tone (floppiness in infancy)
Variable
Can be inherited in different ways depending on the underlying gene
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Hunter-Carpenter-McDonald syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Hunter-Carpenter-McDonald syndrome at this time.
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Specialists
View all specialists →No specialists are currently listed for Hunter-Carpenter-McDonald 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 Hunter-Carpenter-McDonald 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 understand the cause?,Which specialists does my child need to see, and how often?,What early intervention therapies are most important to start right away?,Are there any heart, vision, or hearing problems we should screen for?,What signs or symptoms should prompt us to seek emergency care?,Are there any clinical trials or research studies we could participate in?,What support services and educational resources are available for our family?
Common questions about Hunter-Carpenter-McDonald syndrome
What is Hunter-Carpenter-McDonald syndrome?
Hunter-Carpenter-McDonald syndrome is an extremely rare genetic condition that affects multiple body systems. It is also sometimes referred to by its Orphanet code 2174. The syndrome is characterized by a combination of physical and developmental features that can vary from person to person. Key features typically include intellectual disability, distinctive facial features, and abnormalities affecting the skeleton and connective tissues. Some individuals may also experience problems with their heart, vision, or hearing. Because this syndrome is so rare, much of what is known comes from a ver
At what age does Hunter-Carpenter-McDonald syndrome typically begin?
Typical onset of Hunter-Carpenter-McDonald syndrome is infantile. Age of onset can vary across affected individuals.