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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 condition is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for the CHST14 Gene Ehlers-Danlos Syndrome Musculocontractural Type 1, priced at 4400 AED. For more information, visit our website at DNA Labs UAE.
Symptoms of CHST14 Gene Ehlers-Danlos Syndrome Musculocontractural Type 1
Ehlers-Danlos Syndrome Musculocontractural Type 1 is characterized by a wide range of symptoms, primarily affecting the musculoskeletal system. Key features include:
- Severe progressive muscular hypotonia (decreased muscle tone) from birth, leading to delayed motor development.
- Multiple congenital contractures, including clubfoot or hip dislocation.
- Characteristic craniofacial features, such as a blue sclera, large fontanelles, micrognathia (small jaw), and distinct facial features.
- Severe kyphoscoliosis (curvature of the spine) at birth or developing in infancy.
- Hyperextensible, bruisable skin with atrophic scars; and easy bruising.
- Arachnodactyly (abnormally long and slender fingers and toes).
- Progressive talipes equinovarus (clubfoot).
- Myopathy, which can manifest as muscle weakness.
Other systemic manifestations may include cardiovascular anomalies, such as congenital heart defects and valvular problems, ocular issues like myopia, and skin abnormalities. Due to the systemic nature of the disorder, individuals may also experience gastrointestinal complications, hernias, and peculiar facial features.
Early diagnosis through genetic testing is crucial for managing the condition effectively. The CHST14 Gene Ehlers-Danlos Syndrome Musculocontractural Type 1 Genetic Test offered by DNA Labs UAE for 4400 AED can provide invaluable insights for affected individuals and their families. This test not only confirms the diagnosis but also helps in understanding the risk of passing the condition to future generations.
For further details on the test and to schedule an appointment, please visit our website.
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Symptoms of CHST14 Gene Ehlers-Danlos Syndrome Musculocontractural Type 1
Ehlers-Danlos Syndrome Musculocontractural Type 1 is characterized by a wide range of symptoms, primarily affecting the musculoskeletal system. Key features include:
- Severe progressive muscular hypotonia (decreased muscle tone) from birth, leading to delayed motor development.
- Multiple congenital contractures, including clubfoot or hip dislocation.
- Characteristic craniofacial features, such as a blue sclera, large fontanelles, micrognathia (small jaw), and distinct facial features.
- Severe kyphoscoliosis (curvature of the spine) at birth or developing in infancy.
- Hyperextensible, bruisable skin with atrophic scars; and easy bruising.
- Arachnodactyly (abnormally long and slender fingers and toes).
- Progressive talipes equinovarus (clubfoot).
- Myopathy, which can manifest as muscle weakness.
Other systemic manifestations may include cardiovascular anomalies, such as congenital heart defects and valvular problems, ocular issues like myopia, and skin abnormalities. Due to the systemic nature of the disorder, individuals may also experience gastrointestinal complications, hernias, and peculiar facial features.
Early diagnosis through genetic testing is crucial for managing the condition effectively. The CHST14 Gene Ehlers-Danlos Syndrome Musculocontractural Type 1 Genetic Test offered by DNA Labs UAE for 4400 AED can provide invaluable insights for affected individuals and their families. This test not only confirms the diagnosis but also helps in understanding the risk of passing the condition to future generations.
For further details on the test and to schedule an appointment, please visit our website.
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