Connective Tissue Disorders

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Basics

• Summary
• Diagnosis and Tests

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• Specifics
• Genetics

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Research

• Statistics and Research
• Clinical Trials
• Journal Articles

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For You

• Children
• Patient Handouts

Summary

Your connective tissue supports many different parts of your body, such as your skin, eyes, and heart. It is like a "cellular glue" that gives your body parts their shape and helps keep them strong. It also helps some of your tissues do their work. It is made of many kinds of proteins. Cartilage and fat are types of connective tissue.

Over 200 disorders that impact connective tissue. There are different types:

• Genetic disorders, such as Ehlers-Danlos syndrome, Marfan syndrome, and osteogenesis imperfecta
• Autoimmune disorders, such as lupus and scleroderma
• Cancers, like some types of soft tissue sarcoma

Each disorder has its own symptoms and needs different treatment.

NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

Diagnosis and Tests

• ANA (Antinuclear Antibody) Test (National Library of Medicine) Also in Spanish

Specifics

• Cutis Laxa (Merck & Co., Inc.) Also in Spanish
• Ganglion Cyst (American College of Foot and Ankle Surgeons) Also in Spanish
• Lipoma (Mayo Foundation for Medical Education and Research)
• Loeys-Dietz Syndrome (Marfan Foundation)
• Mixed Connective Tissue Disease (Mayo Foundation for Medical Education and Research) Also in Spanish
• Synovial Chondromatosis (American Academy of Orthopaedic Surgeons)
• Undifferentiated Connective Tissue Disease (UCTD) (National Jewish Health)

Genetics

• Achondrogenesis: MedlinePlus Genetics (National Library of Medicine)
• Arterial tortuosity syndrome: MedlinePlus Genetics (National Library of Medicine)
• Buschke-Ollendorff syndrome: MedlinePlus Genetics (National Library of Medicine)
• Congenital contractural arachnodactyly: MedlinePlus Genetics (National Library of Medicine)
• Cutis laxa: MedlinePlus Genetics (National Library of Medicine)
• Czech dysplasia: MedlinePlus Genetics (National Library of Medicine)
• Hyaline fibromatosis syndrome: MedlinePlus Genetics (National Library of Medicine)
• Hypochondrogenesis: MedlinePlus Genetics (National Library of Medicine)
• Kniest dysplasia: MedlinePlus Genetics (National Library of Medicine)
• Lateral meningocele syndrome: MedlinePlus Genetics (National Library of Medicine)
• Loeys-Dietz syndrome: MedlinePlus Genetics (National Library of Medicine)
• Otospondylomegaepiphyseal dysplasia: MedlinePlus Genetics (National Library of Medicine)
• Platyspondylic lethal skeletal dysplasia, Torrance type: MedlinePlus Genetics (National Library of Medicine)
• Pseudoxanthoma elasticum: MedlinePlus Genetics (National Library of Medicine)
• Shprintzen-Goldberg syndrome: MedlinePlus Genetics (National Library of Medicine)
• Spondyloepimetaphyseal dysplasia, Strudwick type: MedlinePlus Genetics (National Library of Medicine)
• Spondyloepiphyseal dysplasia congenita: MedlinePlus Genetics (National Library of Medicine)
• Spondyloperipheral dysplasia: MedlinePlus Genetics (National Library of Medicine)
• Stickler syndrome: MedlinePlus Genetics (National Library of Medicine)
• Systemic scleroderma: MedlinePlus Genetics (National Library of Medicine)
• Weill-Marchesani syndrome: MedlinePlus Genetics (National Library of Medicine)
• Weissenbacher-Zweymüller syndrome: MedlinePlus Genetics (National Library of Medicine)

Statistics and Research

• Connective Tissue Disorders: Recognizing and Treating Structural Defects (National Institutes of Health) Also in Spanish

Clinical Trials

• ClinicalTrials.gov: Connective Tissue Diseases (National Institutes of Health)
• ClinicalTrials.gov: Mixed Connective Tissue Disease (National Institutes of Health)
• ClinicalTrials.gov: Pseudoxanthoma Elasticum (National Institutes of Health)

Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)

• Article: Evaluating the diagnostic and prognostic utility of serial KL-6 measurements in...
• Article: Rhegmatogenous Retinal Detachment Secondary to Type I Stickler Syndrome: Diagnosis, Treatment...
• Article: Myocardial Performance Index to assess cardiac function in autoimmune connective tissue...
• Connective Tissue Disorders -- see more articles

Find an Expert

• National Institute of Arthritis and Musculoskeletal and Skin Diseases Also in Spanish

Children

• Cartilage Hair Hypoplasia (For Parents) (Nemours Foundation) Also in Spanish
• Diastrophic Dysplasia (For Parents) (Nemours Foundation) Also in Spanish
• Ellis-Van Creveld Dysplasia (For Parents) (Nemours Foundation) Also in Spanish
• Kniest Dysplasia (For Parents) (Nemours Foundation) Also in Spanish
• Multiple Epiphyseal Dysplasia (For Parents) (Nemours Foundation) Also in Spanish
• Spondyloepiphyseal Dysplasia Congenita (SEDc) (For Parents) (Nemours Foundation) Also in Spanish

Patient Handouts

• Dupuytrens contracture (Medical Encyclopedia) Also in Spanish