Summary about Disease
Warkany syndrome 2, also known as trisomy 8 mosaicism, is a rare chromosomal disorder where cells in the body have an extra (third) copy of chromosome 8. This extra chromosome is not present in all cells (mosaicism), meaning some cells have the normal two copies. The degree of mosaicism can vary widely from person to person. The syndrome is associated with a characteristic set of physical features, skeletal abnormalities, and developmental delays. The severity of the symptoms depends on the proportion of cells with the extra chromosome.
Symptoms
Symptoms vary greatly depending on the level of mosaicism. Common features include:
Craniofacial: Prominent forehead, deep-set eyes, thick everted lower lip, large ears, high arched palate, micrognathia (small jaw), abnormal skull shape.
Skeletal: Camptodactyly (permanently bent fingers), scoliosis, vertebral anomalies, long slender trunk, narrow shoulders, absent or hypoplastic patellae.
Other: Intellectual disability (ranging from mild to severe), heart defects, kidney abnormalities, cryptorchidism (undescended testicles) in males, joint contractures, deep palmar and plantar creases.
Causes
Warkany syndrome 2 is caused by mosaic trisomy 8. This means that instead of the usual two copies of chromosome 8, some cells in the body have three copies. This chromosomal abnormality is typically not inherited. It usually arises as a random event during the early stages of cell division after fertilization. The exact reason why this happens is not fully understood.
Medicine Used
There is no specific cure for Warkany syndrome 2, and treatment focuses on managing the individual's symptoms and complications. Medicines used may include:
Cardiac medications: To manage heart defects.
Pain relievers: To alleviate joint pain and discomfort.
Medications to manage seizures: If seizures are present.
Hormone therapy: To address hormonal imbalances like in cases of cryptorchidism.
Is Communicable
No, Warkany syndrome 2 is not communicable. It is a genetic condition caused by a chromosomal abnormality and cannot be spread from person to person.
Precautions
Since Warkany Syndrome 2 is a genetic condition, there are no specific precautions to prevent it from developing in an individual after conception. However, genetic counseling and prenatal testing (such as amniocentesis or chorionic villus sampling) may be considered for parents with a family history of chromosomal abnormalities or those who are at increased risk due to maternal age.
How long does an outbreak last?
Warkany syndrome 2 is not an infectious disease; therefore, it does not involve outbreaks. It is a genetic condition present from birth.
How is it diagnosed?
Diagnosis typically involves:
Clinical evaluation: Based on the characteristic physical features.
Chromosomal analysis (Karyotype): A blood test or tissue sample is used to examine the chromosomes and identify the presence of an extra chromosome 8 in some cells. This confirms the mosaic trisomy 8.
FISH (Fluorescence In Situ Hybridization): This can also be used to detect the presence of extra chromosome 8 material and to quantify the percentage of cells affected by the trisomy.
Prenatal testing: Amniocentesis or chorionic villus sampling can be used during pregnancy to detect the condition in the fetus if there is a concern based on family history or other risk factors.
Timeline of Symptoms
Symptoms are present from birth, though some may become more apparent over time.
Prenatal: May be detected through prenatal screenings if performed.
Infancy: Characteristic facial features, heart defects, kidney abnormalities may be noticeable. Developmental delays may become apparent.
Childhood: Skeletal abnormalities, scoliosis, intellectual disability become more evident.
Adulthood: Ongoing management of health issues related to the syndrome, such as skeletal problems, intellectual disability, and other organ system abnormalities.
Important Considerations
Variability: The severity of symptoms varies greatly depending on the level of mosaicism.
Multidisciplinary care: Management requires a team of specialists, including geneticists, cardiologists, orthopedists, developmental pediatricians, and therapists.
Early intervention: Early intervention programs (physical therapy, occupational therapy, speech therapy) are crucial to maximize developmental potential.
Genetic counseling: Important for families to understand the condition, recurrence risks, and available testing options.
Life expectancy: Life expectancy can vary depending on the severity of the condition and the presence of significant health problems, but many individuals with Warkany syndrome 2 can live into adulthood.