Coffin-Lowry syndrome synonyms
What other names are the Coffin-Lowry syndrome known by? Synonyms and other terms with which Coffin-Lowry syndrome is known.
Coffin-Lowry syndrome is a rare genetic disorder that affects various aspects of an individual's development and physical characteristics. It is also known by several other names, including Coffin-Lowry syndrome (CLS), Coffin-Lowry syndrome disorder, and Coffin-Lowry syndrome disease.
Individuals with Coffin-Lowry syndrome typically exhibit distinctive facial features, such as a prominent forehead, widely spaced and downward-slanting eyes, a broad nose, and a wide mouth with full lips. These facial characteristics can vary in severity among affected individuals. Additionally, individuals with Coffin-Lowry syndrome often have short stature, skeletal abnormalities, and intellectual disability.
Coffin-Lowry syndrome is caused by mutations in the RPS6KA3 gene, which is located on the X chromosome. This gene provides instructions for making a protein that is involved in cell signaling and regulation of gene expression. The specific mutations in the RPS6KA3 gene disrupt the normal function of the protein, leading to the signs and symptoms associated with Coffin-Lowry syndrome.
The inheritance pattern of Coffin-Lowry syndrome is X-linked dominant, which means that the condition primarily affects males. However, females can also be affected, although their symptoms are often milder due to the presence of a second X chromosome.
Diagnosis of Coffin-Lowry syndrome is typically based on clinical evaluation, medical history, and genetic testing to identify mutations in the RPS6KA3 gene. Early diagnosis is important to provide appropriate medical management and support for affected individuals and their families.
Treatment for Coffin-Lowry syndrome focuses on managing the symptoms and providing supportive care. This may include physical therapy, speech therapy, educational interventions, and counseling to address the intellectual and developmental challenges associated with the condition.
In conclusion, Coffin-Lowry syndrome, also known as Coffin-Lowry syndrome disorder or Coffin-Lowry syndrome disease, is a rare genetic disorder characterized by distinctive facial features, intellectual disability, and skeletal abnormalities. It is caused by mutations in the RPS6KA3 gene and primarily affects males. Early diagnosis and appropriate management can help improve the quality of life for individuals with Coffin-Lowry syndrome.
