Summary about Disease
Warkany syndrome, also known as trisomy 8 mosaicism syndrome, is a rare chromosomal disorder in which there is an extra (third) copy of chromosome 8 in some, but not all, of the body's cells. The severity and specific symptoms can vary significantly depending on the percentage of cells with the extra chromosome (the degree of mosaicism). Common features include intellectual disability, characteristic facial features, skeletal abnormalities, and heart defects.
Symptoms
Symptoms of Warkany syndrome can vary greatly, but may include:
Craniofacial: Prominent forehead, deep-set eyes, strabismus (crossed eyes), a large or malformed nose, thick everted lower lip, low-set or malformed ears, high arched palate, micrognathia (small lower jaw).
Skeletal: Skeletal abnormalities, scoliosis (curvature of the spine), camptodactyly (permanently bent fingers), limited joint movement, absent or hypoplastic patellae (kneecaps).
Cardiovascular: Congenital heart defects.
Neurological: Intellectual disability (ranging from mild to severe), seizures.
Other: Deep palmar and plantar creases, genitourinary abnormalities.
Causes
Warkany syndrome is caused by mosaic trisomy 8. This means that instead of the usual two copies of chromosome 8 in each cell, some cells have three copies. The extra chromosome 8 typically arises as a random error during cell division, either during the formation of the egg or sperm (meiosis) or after fertilization (mitosis). It is not usually inherited.
Medicine Used
There is no specific cure for Warkany syndrome. Treatment focuses on managing the individual's symptoms and associated health problems. This may involve:
Cardiac medications: To manage heart defects.
Orthopedic interventions: Such as surgery or bracing for skeletal abnormalities.
Physical therapy: To improve motor skills and mobility.
Speech therapy: To improve communication skills.
Occupational therapy: To enhance daily living skills.
Anticonvulsants: To control seizures.
Other medications: To address specific medical issues as they arise.
Is Communicable
No, Warkany syndrome is not communicable. It is a genetic disorder caused by a chromosomal abnormality and cannot be spread from person to person.
Precautions
There are no specific precautions to prevent Warkany syndrome, as it is a random genetic occurrence. Prenatal genetic testing, such as amniocentesis or chorionic villus sampling, can be performed to detect chromosomal abnormalities in a developing fetus, but this is for diagnosis, not prevention.
How long does an outbreak last?
Warkany syndrome is not an infectious disease and does not involve outbreaks. It is a lifelong genetic condition.
How is it diagnosed?
Warkany syndrome is typically diagnosed through:
Physical examination: Observing characteristic physical features.
Chromosomal analysis (karyotype): A blood test or other tissue sample is used to examine the chromosomes and identify the presence of trisomy 8 mosaicism. Fluorescence in situ hybridization (FISH) may also be used to confirm the diagnosis.
Timeline of Symptoms
Symptoms can be present at birth (congenital) and may become more apparent as the child develops. The timeline varies depending on the individual:
Prenatal: May be suspected during prenatal ultrasound due to certain physical findings.
Infancy: Characteristic facial features, heart defects, and skeletal abnormalities may be noticeable.
Childhood: Developmental delays, intellectual disability, and seizures may become more evident.
Adulthood: Continued management of health issues and ongoing support for intellectual and physical challenges.
Important Considerations
The degree of mosaicism (percentage of cells with the extra chromosome) significantly affects the severity of symptoms.
Early diagnosis and intervention are crucial to optimize development and manage health problems.
Individuals with Warkany syndrome require lifelong medical care and support.
Genetic counseling is recommended for families affected by Warkany syndrome to understand the risks of recurrence in future pregnancies.
Due to the variability in presentation, management plans should be tailored to the specific needs of each individual.