Profile of a rare disease – Fragile X syndrome
Fragile X syndrome is a rare disease and a member of a recognized family of genetic disorders caused by the partial or complete mutation of a specific gene. In the case of Fragile X, this mutation affects the FMR1 gene.
A complete mutation of the FMR1 gene causes Fragile X. This mutation prevents the production of an essential protein necessary for typical brain development. Due to the lack of production of this protein, Fragile X has a considerable impact on the neurological condition of an affected individual, most notably affecting their behavior and their intellectual ability and functioning.
The syndrome is inherited in an X-linked dominant pattern. This makes it more common, and severe in males than females.
Fragile X facial features and symptoms
The unique facial features and symptoms of the syndrome may vary in their presentation between affected individuals and vary in their severity. We know males tend to experience and present with more severe symptoms than females.
Some of the unique and characteristic Fragile X facial features include a long and narrow face, an arched and high palate, and large ears. These features are also often accompanied by soft skin.
Other common physical features of this rare disease include enlarged testicles (in males), flat feet, and hypermobility of the joints – this means increased flexibility of the joints, and how they move. In females, a common physical symptom is premature ovarian failure.
Neurological symptoms of the syndrome, related to brain development, include intellectual disability (this may vary in severity but is generally mild to moderate), and developmental delay (affecting all areas of an individual’s development). Tremors and ataxia are also possible symptoms.
Individuals with Fragile X may also be diagnosed with other neurological and developmental conditions, including autism, ADHD, and sensory-related disorders.
Fragile X and genetic counseling
When facing a diagnosis of Fragile X, genetic counseling serves as an essential and critical support service. It is a key part of the genetic diagnosis process, for any rare disease, and should not be skipped.
Genetic counseling can understand an individual’s symptoms within the context of a rare disease, in this example Fragile X, and recommend the most targeted and accurate genetic testing options as a result.
It is also able to explain the testing process for Fragile X, and what a confirmed diagnosis of the syndrome will mean for an individual and their family. As an inherited syndrome, they can also explain the risk for current and future family members in terms of their chances of developing the syndrome.
Receiving a Fragile X diagnosis is not easy – it can be a complicated and stressful process, fraught with difficult results and decisions to be made. Genetic counseling aims to guide individuals and families through the process with emotional and expert genetic support.
Genetic counseling for Fragile X can put an individual’s, possibly previously unconnected symptoms and features, into the context of a rare disease, and an eventual diagnosis.
Identifying the facial features associated with Fragile X Syndrome is crucial for early diagnosis and intervention. As parents, staying proactive about your child’s developmental health is essential. We encourage you to use the Child Development Checker App to analyze potential developmental delays and genetic concerns. For personalized guidance, make use of the “Connect to an Expert” feature. These resources will provide you with valuable insights and professional support, ensuring your child receives the best possible care and attention.
