Overview
Orphanet entry 139030 refers to a rare developmental defect that involves 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 develop properly, it can lead to a wide range of problems throughout the body. Patients with this type of condition may experience joint looseness (hypermobility), skin that stretches more than normal or bruises easily, skeletal abnormalities, and problems with blood vessels or internal organs. The severity can vary greatly from person to person. Some individuals may have mild symptoms, while others may face more significant challenges that affect their daily life and overall health. Because connective tissue is found throughout the body, this condition can affect multiple organ systems at once, making it a multi-system disorder. Treatment is generally focused on managing symptoms and preventing complications, as there is currently no cure for most connective tissue developmental defects. A team of specialists typically works together to provide the best care. Early diagnosis and regular monitoring are important to catch and address problems before they become serious.
Key symptoms:
Loose or overly flexible jointsSkin that stretches more than normalEasy bruisingSkeletal abnormalities such as curved spine or unusual bone shapeDelayed growth or short statureMuscle weaknessFragile blood vesselsHeart valve problemsVision problemsChronic joint painFrequent joint dislocationsSlow wound healingFatigue
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
2 eventsRoyal National Orthopaedic Hospital NHS Trust — NA
Istituto Ortopedico Rizzoli — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Rare developmental defect with connective tissue involvement.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
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 developmental defect with connective tissue involvement.
Community
No community posts yet. Be the first to share your experience with Rare developmental defect with connective tissue involvement.
Start the conversation →Latest news about Rare developmental defect with connective tissue involvement
No recent news articles for Rare developmental defect with connective tissue involvement.
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 specific type of connective tissue disorder does my child or I have?,Is genetic testing recommended, and what can it tell us?,What complications should we watch for, and how often should we be screened?,Are there any physical activities we should avoid to protect the joints and blood vessels?,What therapies or treatments can help manage symptoms?,Should other family members be tested?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Rare developmental defect with connective tissue involvement
What is Rare developmental defect with connective tissue involvement?
Orphanet entry 139030 refers to a rare developmental defect that involves 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 develop properly, it can lead to a wide range of problems throughout the body. Patients with this type of condition may experience joint looseness (hypermobility), skin that stretches more than normal or bruises easily, skeletal abnormalities, and problems with blood vessels or internal organs. The severity can vary
Are there clinical trials for Rare developmental defect with connective tissue involvement?
Yes — 1 recruiting clinical trial is currently listed for Rare developmental defect with connective tissue involvement on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Rare developmental defect with connective tissue involvement?
1 specialists and care centers treating Rare developmental defect with connective tissue involvement are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.