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Inherited Connective Tissue Disorders

Inherited connective tissue disorders encompass a wide range of genetic disorders that result from defects in genes responsible for creating the matrix that holds our cells together. This matrix serves a critical role in the body beyond just forming our physical structure. It is a dynamic environment that affects cellular communication, metabolism, and other important bodily functions.

Connective tissue disorders can affect many organ systems because connective tissue is present throughout the body. These genetic disorders are known for their ability to cause multi-organ involvement, leading to a wide range of symptoms that can vary greatly even between family members who are affected by the same condition. Due to the complex nature of these disorders, diagnosis and management can be challenging, requiring a thorough understanding of the underlying genetic and molecular mechanisms involved. If you suspect you or a loved one has a connective tissue disorder, it is important to seek medical attention promptly to ensure proper diagnosis and treatment.

Four typical examples of heritable connective tissue disorders (HCTDs) are Marfan and Marfan-like syndromes (MFS), Ehlers-Danlos syndromes (EDS), Loeys-Dietz syndrome (LDS), and osteogenesis imperfecta (OI).

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Cutis laxa is a connective tissue disorder characterized by abnormally elastic tissue, causing skin to be loose. Like other connective tissue disorders it can affect the heart, eyes, and joints. The condition is caused by mutations to the FBLN5, EFEMP2, LTBP4, ATP6V0A2, PYCR1, or ALDH18A1 genes.

Our Physicians

Irman Forghani, MD, FACMG

Director of Genetics at Mount Sinai Medical Center

  • Medical Genetics
  • Cancer
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