Summary about Disease
Wilson-Turner syndrome is a rare X-linked intellectual disability syndrome primarily affecting males. It is characterized by intellectual disability, distinctive facial features, obesity, gynecomastia (enlarged male breasts), and behavioral problems. The severity of symptoms can vary between individuals.
Symptoms
Intellectual disability (varying degrees)
Distinctive facial features: broad forehead, prominent supraorbital ridges, large ears, thick lips, prognathism (protruding jaw).
Obesity
Gynecomastia (enlarged male breasts)
Behavioral problems: aggression, hyperactivity, autism spectrum disorder characteristics.
Short Stature
Hypogonadism (reduced function of the testes)
Seizures (in some cases)
Causes
Wilson-Turner syndrome is caused by mutations in the MED12 gene located on the X chromosome. Because it's X-linked, males (who have only one X chromosome) are typically more severely affected. Females (who have two X chromosomes) may be carriers or exhibit milder symptoms if they inherit the mutated gene.
Medicine Used
There is no specific cure for Wilson-Turner syndrome. Treatment focuses on managing the individual symptoms and may include:
Behavioral Therapy: To address behavioral problems like aggression and hyperactivity.
Educational Support: Special education programs tailored to the individual's intellectual abilities.
Hormone Therapy: May be used to manage hypogonadism or gynecomastia.
Anti-seizure medication: To control seizures, if present.
Medications for other symptoms: Such as medications to manage obesity or other medical conditions that may arise.
Is Communicable
No, Wilson-Turner syndrome is not communicable. It is a genetic disorder caused by a gene mutation and cannot be spread from person to person.
Precautions
Since Wilson-Turner syndrome is a genetic condition, there are no precautions to prevent acquiring it. For families with a history of the syndrome, genetic counseling and testing can help assess the risk of having a child with the condition.
How long does an outbreak last?
Wilson-Turner syndrome is not an infectious disease, so there is no "outbreak" or duration. It is a lifelong genetic condition.
How is it diagnosed?
Diagnosis typically involves:
Clinical Evaluation: Assessment of the individual's physical characteristics, developmental milestones, and behavior.
Genetic Testing: Molecular genetic testing of the MED12 gene to identify mutations.
Imaging Studies: MRI of the brain may be performed.
Timeline of Symptoms
Symptoms can present at different stages of development:
Infancy: Possible developmental delays may be noticed.
Childhood: Intellectual disability becomes apparent. Distinctive facial features become more pronounced. Behavioral problems may emerge.
Adolescence: Gynecomastia may develop. Puberty may be delayed or incomplete due to hypogonadism.
Adulthood: Symptoms persist throughout life.
Important Considerations
Multidisciplinary Care: Individuals with Wilson-Turner syndrome benefit from a team approach involving medical specialists (genetics, endocrinology, neurology), therapists (speech, occupational, physical), and educators.
Individualized Treatment: Management plans should be tailored to the specific needs and symptoms of each individual.
Family Support: Support groups and resources for families affected by genetic disorders can provide valuable information and emotional support.
Genetic Counseling: Genetic counseling is recommended for families to understand the inheritance pattern and recurrence risk.