Overview
Rare hereditary connective tissue disease (Orphanet code 619249) is an extremely rare genetic condition that affects the body's connective tissue. Connective tissue is the material that holds together and supports many parts of the body, including skin, bones, joints, blood vessels, and internal organs. When connective tissue does not form or function properly, it can lead to problems in multiple body systems. Because this is an ultra-rare condition with very limited published information, the full range of symptoms and their severity is not yet well understood. Patients with hereditary connective tissue disorders may experience joint hypermobility (overly flexible joints), skin that is unusually stretchy or fragile, easy bruising, skeletal abnormalities, and problems with blood vessels or internal organs. The specific combination and severity of symptoms can vary widely from person to person. Treatment for this condition is currently focused on managing symptoms and preventing complications, as no cure exists. Care typically involves a team of specialists who work together to address the different body systems that may be affected. Physical therapy, pain management, and regular monitoring of the heart and blood vessels are common parts of the care plan. Research into the genetic basis of rare connective tissue diseases is ongoing, and new discoveries may lead to better treatments in the future.
Key symptoms:
Overly flexible or loose jointsSkin that stretches more than normalFragile skin that tears or bruises easilyChronic joint painJoint dislocations or subluxationsSkeletal abnormalitiesSlow wound healingMuscle weaknessFatigueProblems with blood vessels
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Rare hereditary connective tissue disease.
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Rare Disease Specialist
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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 Rare hereditary connective tissue disease.
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 specific type of connective tissue disorder do I or my child have, and is the genetic cause known?,Which body systems should be monitored regularly, and how often?,Are there any activities or sports I should avoid to protect my joints and tissues?,What are the warning signs of a serious complication that would require emergency care?,Is genetic testing recommended for other family members?,Are there any clinical trials or research studies I could participate in?,What specialists should be part of my care team?
Common questions about Rare hereditary connective tissue disease
What is Rare hereditary connective tissue disease?
Rare hereditary connective tissue disease (Orphanet code 619249) is an extremely rare genetic condition that affects the body's connective tissue. Connective tissue is the material that holds together and supports many parts of the body, including skin, bones, joints, blood vessels, and internal organs. When connective tissue does not form or function properly, it can lead to problems in multiple body systems. Because this is an ultra-rare condition with very limited published information, the full range of symptoms and their severity is not yet well understood. Patients with hereditary conne
Which specialists treat Rare hereditary connective tissue disease?
17 specialists and care centers treating Rare hereditary connective tissue disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.