Connective Tissue Disease


 What Are the Symptoms of a HDCT? Heritable Disorders of Connective Tissue

Each disorder has different symptoms.


Some diseases cause bone growth problems. People with bone growth disorders may have brittle bones or bones that are too long or too short.

Some disorders cause people to be unusually tall (Marfan syndrome) or short (chondrodysplasias, osteogenesis imperfecta), or to have head and facial structure malformations (Apert syndrome, Pfeiffer syndrome).

In some of these disorders, joint looseness or joints that are too tight can cause problems.

The skin can be affected as well. Ehlers-Danlos syndrome results in stretchy or loose skin, while in another connective tissue disorder, cutis laxa, deficient elastic fibers cause the skin to hang in folds. Epidermolysis bullosa results in blistered skin. Pseudoxanthoma elasticum causes skin, eye, and heart problems, and closed-off or blocked blood vessels. Marfan syndrome and some forms of Ehlers-Danlos syndrome lead to weak blood vessels.

It is critical for affected individuals and their family members to work closely with their health care teams. Symptoms of HDCTs are extremely variable, and some disorders can pose severe health risks even when affected individuals have no symptoms.

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