What are the organ systems affected by fragile x syndrome?
Fragile X Syndrome (FXS) is a genetic disorder caused by a mutation in the FMR1 gene. It is the most common known cause of inherited intellectual disability and is associated with a range of physical and behavioral symptoms. The organ systems affected by FXS include:
- Central Nervous System: FXS primarily affects the central nervous system, leading to intellectual disability, developmental delays, and learning difficulties. Individuals with FXS may also have problems with attention, memory, and social interactions.
- Musculoskeletal System: Many people with FXS have hypotonia, or low muscle tone, which can affect their physical development and coordination. Joint hypermobility, or loose joints, is also common in FXS.
- Cardiovascular System: Heart problems are common in individuals with FXS. These may include congenital heart defects, such as atrial septal defect (ASD) or ventricular septal defect (VSD), as well as arrhythmias and cardiomyopathy.
- Gastrointestinal System: Gastrointestinal issues, such as constipation and diarrhea, are frequently experienced by individuals with FXS. These problems can be caused by difficulties with digestion and absorption of nutrients.
- Genitourinary System: Delayed puberty and reproductive problems are common in males with FXS. In females, menstrual irregularities may occur.
- Ophthalmic System: Eye problems, such as strabismus (crossed eyes) and nystagmus (involuntary eye movements), are common in individuals with FXS.
- Dermatologic System: Skin problems, such as eczema and keratosis pilaris (bumpy skin), may occur in individuals with FXS.
It's important to note that while these are the organ systems commonly affected by FXS, the severity and symptoms may vary widely among individuals. Regular monitoring and management of these systems are important for the overall health and well-being of individuals with FXS.