Overview
Carney complex-trismus-pseudocamptodactyly syndrome is an extremely rare genetic condition that combines features of two distinct disorders: Carney complex and trismus-pseudocamptodactyly syndrome. Carney complex is a condition that causes multiple tumors and abnormal skin pigmentation (such as dark spots or freckling), along with overactivity of certain hormone-producing glands. It can lead to heart tumors called myxomas, skin myxomas, and tumors of the adrenal glands, pituitary gland, or other endocrine organs. Trismus-pseudocamptodactyly syndrome involves limited ability to open the mouth fully (trismus) and an unusual hand posture where the fingers appear bent when the wrist is flexed, though they can straighten when the wrist is relaxed (pseudocamptodactyly). This combined syndrome is caused by mutations in the MYH8 gene, which provides instructions for making a muscle protein. Patients may experience a wide range of symptoms affecting the heart, skin, endocrine system, and musculoskeletal system. Because this condition is so rare, treatment is tailored to each patient's specific symptoms and may include surgery for tumors, hormone management, and physical therapy for joint and muscle problems. Close monitoring by a team of specialists is essential for managing the various aspects of this syndrome.
Also known as:
Key symptoms:
Limited ability to open the mouth fully (trismus)Fingers that appear bent when the wrist is flexed (pseudocamptodactyly)Dark spots or freckling on the skinHeart tumors (cardiac myxomas)Skin bumps or lumps (skin myxomas)Overactive hormone glands (endocrine overactivity)Short statureMuscle stiffness or tightnessDifficulty chewing or eating due to limited jaw openingAbnormal hand postureAdrenal gland tumorsPituitary gland abnormalitiesJoint stiffness or limited range of motion
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Carney complex-trismus-pseudocamptodactyly syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Carney complex-trismus-pseudocamptodactyly syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Carney complex-trismus-pseudocamptodactyly 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 Carney complex-trismus-pseudocamptodactyly syndrome.
Community
No community posts yet. Be the first to share your experience with Carney complex-trismus-pseudocamptodactyly syndrome.
Start the conversation →Latest news about Carney complex-trismus-pseudocamptodactyly syndrome
No recent news articles for Carney complex-trismus-pseudocamptodactyly 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.How often should my heart be checked with echocardiography?,What endocrine tests should be done regularly, and how often?,Are there specific physical therapy exercises that can help with jaw opening and hand function?,What emergency signs should I watch for that would require immediate medical attention?,Should other family members be tested for this genetic condition?,Are there any clinical trials or research studies I could participate in?,What specialists should be part of my ongoing care team?
Common questions about Carney complex-trismus-pseudocamptodactyly syndrome
What is Carney complex-trismus-pseudocamptodactyly syndrome?
Carney complex-trismus-pseudocamptodactyly syndrome is an extremely rare genetic condition that combines features of two distinct disorders: Carney complex and trismus-pseudocamptodactyly syndrome. Carney complex is a condition that causes multiple tumors and abnormal skin pigmentation (such as dark spots or freckling), along with overactivity of certain hormone-producing glands. It can lead to heart tumors called myxomas, skin myxomas, and tumors of the adrenal glands, pituitary gland, or other endocrine organs. Trismus-pseudocamptodactyly syndrome involves limited ability to open the mouth f
How is Carney complex-trismus-pseudocamptodactyly syndrome inherited?
Carney complex-trismus-pseudocamptodactyly syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.