Overview
Connective tissue disorder due to lysyl hydroxylase-3 deficiency is an extremely rare genetic condition that affects the body's connective tissues — the tissues that provide structure and support to skin, bones, joints, blood vessels, and organs. This disorder is caused by problems with an enzyme called lysyl hydroxylase-3 (also known as LH3 or PLOD3), which plays an important role in building and modifying collagen, the main structural protein in the body. Without properly functioning LH3, collagen cannot be assembled correctly, leading to widespread problems throughout the body. Patients with this condition may experience fragile skin that bruises easily, joint hypermobility (overly flexible joints), skeletal abnormalities, growth problems, and abnormalities affecting the eyes and other organs. Because collagen is found almost everywhere in the body, symptoms can affect multiple organ systems. Some affected individuals may also have flat facial features, hearing loss, and developmental concerns. This condition is sometimes referred to as PLOD3-related connective tissue disorder. Because it is so rare, there is currently no specific cure. Treatment focuses on managing individual symptoms and preventing complications. A team of specialists is usually needed to provide comprehensive care. Early diagnosis through genetic testing can help families plan appropriate medical follow-up and supportive therapies.
Also known as:
Key symptoms:
Fragile skin that tears or bruises easilyOverly flexible or loose jointsSkeletal abnormalities and bone fragilityGrowth delay or short statureFlat facial featuresHearing lossVision problems or eye abnormalitiesMuscle weaknessDelayed motor developmentSkin blistering or abnormal scarringClubfoot or other limb deformitiesNail abnormalitiesArterial or vascular fragility
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 Connective tissue disorder due to lysyl hydroxylase-3 deficiency.
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Specialists
View all specialists →No specialists are currently listed for Connective tissue disorder due to lysyl hydroxylase-3 deficiency.
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 Connective tissue disorder due to lysyl hydroxylase-3 deficiency.
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.How severe is my child's condition, and which organs are most affected?,What specialists should we see regularly, and how often?,Are there specific precautions we should take to protect the skin and bones?,What physical therapy or rehabilitation programs would be most helpful?,Are there any clinical trials or research studies we could participate in?,What emergency signs should we watch for at home?,Should other family members be tested for carrier status?
Common questions about Connective tissue disorder due to lysyl hydroxylase-3 deficiency
What is Connective tissue disorder due to lysyl hydroxylase-3 deficiency?
Connective tissue disorder due to lysyl hydroxylase-3 deficiency is an extremely rare genetic condition that affects the body's connective tissues — the tissues that provide structure and support to skin, bones, joints, blood vessels, and organs. This disorder is caused by problems with an enzyme called lysyl hydroxylase-3 (also known as LH3 or PLOD3), which plays an important role in building and modifying collagen, the main structural protein in the body. Without properly functioning LH3, collagen cannot be assembled correctly, leading to widespread problems throughout the body. Patients wi
How is Connective tissue disorder due to lysyl hydroxylase-3 deficiency inherited?
Connective tissue disorder due to lysyl hydroxylase-3 deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Connective tissue disorder due to lysyl hydroxylase-3 deficiency typically begin?
Typical onset of Connective tissue disorder due to lysyl hydroxylase-3 deficiency is neonatal. Age of onset can vary across affected individuals.