Baller-Gerold syndrome
Baller-Gerold Syndrome
Baller-Gerold Syndrome (pronounced: bahl-er jeh-rold sin-drohm) is a rare genetic disorder that is primarily characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of the bones in the arms and hands.
Etymology
The syndrome is named after the physicians who first described it, Dr. U. Gerold and Dr. M. Baller. The term "syndrome" is derived from the Greek word "syndromē" which means "concurrence of symptoms, concourse of many."
Symptoms
The most common symptoms of Baller-Gerold Syndrome include craniosynostosis, a condition where the sutures in the skull close prematurely, and radial aplasia, which is the absence of the radius bone in the forearm. Other symptoms may include growth retardation, heart defects, and various abnormalities of the skeletal system, kidneys, and gastrointestinal system.
Causes
Baller-Gerold Syndrome is caused by mutations in the RECQL4 gene. This gene provides instructions for making a protein that is involved in maintaining the stability of a cell's genetic information and helping to repair damaged DNA.
Diagnosis
Diagnosis of Baller-Gerold Syndrome is typically based on a clinical evaluation, detailed patient history, and a variety of specialized tests. These tests may include advanced imaging techniques, such as computed tomography (CT) scans and magnetic resonance imaging (MRI), to detect craniosynostosis and other abnormalities associated with the syndrome.
Treatment
Treatment for Baller-Gerold Syndrome is symptomatic and supportive. This may include surgery to correct craniosynostosis, physical therapy to improve mobility, and various other treatments to address the specific symptoms present in each individual.
Prognosis
The prognosis for individuals with Baller-Gerold Syndrome varies greatly depending on the severity of the symptoms and the individual's overall health. With appropriate treatment and management, many individuals with the syndrome can lead a normal life.
See Also
External links
- Medical encyclopedia article on Baller-Gerold syndrome
- Wikipedia's article - Baller-Gerold syndrome
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