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Symptoms and Testing information for CHST14 Gene Ehlers-Danlos Syndrome Musculocontractural Type 1 Genetic Test

Symptoms and Testing information for CHST14 Gene Ehlers-Danlos Syndrome Musculocontractural Type 1 Genetic Test

— Ehlers-Danlos Syndrome (EDS) is a group of disorders that affect the connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Among its various types, the Musculocontractural Type 1, caused by mutations in the CHST14 gene, stands out due to its distinctive clinical manifestations. Understanding the symptoms associated with this […]

Symptoms and Testing information for FKBP14 Gene Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis Myopathy and Hearing Loss Genetic Test

Symptoms and Testing information for FKBP14 Gene Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis Myopathy and Hearing Loss Genetic Test

Ehlers-Danlos Syndrome (EDS) is a group of genetic disorders that affect the connective tissues in the body, which provide strength and elasticity to the skin, joints, and blood vessels. Among the various types of EDS, one rare form is associated with mutations in the FKBP14 gene. This specific subtype is characterized by progressive kyphoscoliosis, myopathy, […]

Symptoms and Testing information for ADAMTS2 Gene Ehlers-Danlos Syndrome Type 7C Genetic Test

Symptoms and Testing information for ADAMTS2 Gene Ehlers-Danlos Syndrome Type 7C Genetic Test

Ehlers-Danlos Syndrome (EDS) is a group of inherited disorders that affect the connective tissues, primarily the skin, joints, and blood vessel walls. Among its various types, the Ehlers-Danlos Syndrome Type 7C, also known as the Dermatosparaxis type, is caused by mutations in the ADAMTS2 gene. This rare type of EDS is characterized by extremely fragile […]

Symptoms and Testing information for COL1A1 Gene Ehlers-Danlos Syndrome Type 7A Genetic Test

Symptoms and Testing information for COL1A1 Gene Ehlers-Danlos Syndrome Type 7A Genetic Test

Ehlers-Danlos Syndrome (EDS) represents a group of genetic disorders that affect the connective tissues in the body, which provide strength and elasticity to the skin, bones, blood vessels, and other tissues. Among the various types of EDS, Type 7A, also known as Arthrochalasia EDS (aEDS), is caused by mutations in the COL1A1 gene. This specific […]

Symptoms and Testing information for PLOD1 Gene Ehlers-Danlos Syndrome Type 6 Genetic Test

Symptoms and Testing information for PLOD1 Gene Ehlers-Danlos Syndrome Type 6 Genetic Test

— Ehlers-Danlos Syndrome (EDS) is a group of inherited disorders that affect connective tissues — primarily skin, joints, and blood vessel walls. EDS is known for causing overly flexible joints and stretchy, fragile skin. Type 6 Ehlers-Danlos Syndrome, also known as Kyphoscoliotic EDS, is caused by mutations in the PLOD1 gene. This specific type is […]

Symptoms and Testing information for COL5A1 Gene Ehlers-Danlos Syndrome Type 4 Genetic Test

Symptoms and Testing information for COL5A1 Gene Ehlers-Danlos Syndrome Type 4 Genetic Test

Ehlers-Danlos Syndrome (EDS) is a group of genetic connective tissue disorders characterized by skin hyperextensibility, joint hypermobility, and tissue fragility. Among the various types of EDS, Type 4, also known as the vascular type, is one of the most severe and life-threatening forms. This type is primarily caused by mutations in the COL5A1 gene. Understanding […]

Symptoms and Testing information for COL3A1 Gene Ehlers-Danlos Syndrome Type 4 Genetic Test

Symptoms and Testing information for COL3A1 Gene Ehlers-Danlos Syndrome Type 4 Genetic Test

Ehlers-Danlos Syndrome (EDS) encompasses a group of genetic connective tissue disorders, each varying in symptoms and severity. Among these, the Vascular Ehlers-Danlos Syndrome, also known as Type 4 EDS, caused by mutations in the COL3A1 gene, is one of the most severe forms. Understanding the symptoms and genetic basis of this condition is crucial for […]

Symptoms and Testing information for TNXB Gene Ehlers-Danlos Syndrome Type 3 Genetic Test

Symptoms and Testing information for TNXB Gene Ehlers-Danlos Syndrome Type 3 Genetic Test

Symptoms of TNXB Gene Ehlers-Danlos Syndrome Type 3 Genetic Test Ehlers-Danlos Syndrome (EDS) represents a group of genetic connective tissue disorders, characterized by a variety of symptoms ranging from highly flexible joints to more severe physical manifestations. Type 3, also known as the hypermobility type, is particularly challenging to diagnose due to its wide range […]

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