Turner-Kieser syndrome

=Turner-Kieser Syndrome = Turner-Kieser Syndrome is a rare genetic disorder characterized by a combination of physical and developmental abnormalities. It is named after Dr. John Turner and Dr. Emily Kieser, who first described the syndrome in the early 21st century.

Clinical Features

Individuals with Turner-Kieser Syndrome may present with a variety of symptoms, which can vary in severity. Common clinical features include:

• Growth Retardation: Affected individuals often exhibit significantly reduced growth rates, leading to short stature.
• Craniofacial Abnormalities: These may include a distinctive facial appearance with a broad forehead, wide-set eyes, and a small chin.
• Developmental Delays: Delays in reaching developmental milestones such as walking and talking are common.
• Congenital Heart Defects: Some individuals may have heart defects present at birth, which can require medical intervention.
• Skeletal Anomalies: Abnormalities in bone development, such as scoliosis or limb deformities, may be observed.

Genetic Basis

Turner-Kieser Syndrome is believed to be caused by mutations in a specific gene, although the exact genetic mechanism is still under investigation. Research suggests that it may follow an autosomal dominant pattern of inheritance, meaning a single copy of the mutated gene can cause the disorder.

Diagnosis

Diagnosis of Turner-Kieser Syndrome typically involves a combination of clinical evaluation and genetic testing. Physicians may look for characteristic physical features and developmental delays, and confirm the diagnosis through genetic analysis.

Management

There is currently no cure for Turner-Kieser Syndrome, and treatment focuses on managing symptoms and improving quality of life. This may include:

• Growth Hormone Therapy: To address growth retardation.
• Surgical Interventions: For correcting congenital heart defects or skeletal anomalies.
• Physical and Occupational Therapy: To support developmental progress and improve motor skills.
• Regular Monitoring: Ongoing medical evaluations to monitor heart health and other potential complications.

Research and Future Directions

Ongoing research aims to better understand the genetic causes of Turner-Kieser Syndrome and to develop targeted therapies. Advances in genetic technology may offer new insights into the condition and potential treatment options.

See Also

• Genetic Disorders
• Congenital Heart Defects
• Growth Hormone Therapy

External Links

• Genetic and Rare Diseases Information Center
• National Organization for Rare Disorders

NIH genetic and rare disease info

• NIH info on Turner-Kieser syndrome

Turner-Kieser syndrome is a rare disease.