What is Genetic Counseling for Connective Tissue Disorders?

Genetic counseling for connective tissue disorders involves identifying and understanding the genetic causes of conditions like Marfan syndrome, Ehlers-Danlos syndrome, and osteogenesis imperfecta. It helps in managing these conditions, understanding their progression, and planning for future care.

Benefits of Genetic Counseling for Connective Tissue Disorders

Early diagnosis and tailored management can enhance the quality of life for individuals with connective tissue disorders, providing targeted therapies and support.

Who Should Get Genetic Counseling for Connective Tissue Disorders?

Individuals with a family history of connective tissue disorders or those experiencing unexplained joint or skin issues like increased fatigue, Cold and numb fingers or toes, Swollen fingers or hands, anemia should consider genetic counseling.

Genetic Testing for Connective Tissue Disorders

Genetic tests can identify mutations causing connective tissue disorders, guiding diagnosis and treatment.

Example of Genetic conditions that can be Identified:

• Marfan Syndrome
•  Ehlers-Danlos Syndrome
•  Osteogenesis Imperfecta
•  Stickler Syndrome
•  Loeys-Dietz Syndrome
•  Cutis Laxa
•  Pseudoxanthoma Elasticum
•  Alport Syndrome
•  Williams Syndrome