How do I know if I have Aarskog-Scott Syndrome?
What signs or symptoms may make you suspect you may have Aarskog-Scott Syndrome. People who have experience in Aarskog-Scott Syndrome offer advice of what things may make you suspicious and which doctor you should go to to receive treatment
Aarskog-Scott Syndrome (AAS), also known as Aarskog syndrome or faciogenital dysplasia, is a rare genetic disorder that primarily affects males. It is characterized by distinctive facial features, short stature, and abnormalities in the hands, genitals, and skeletal system. While AAS is more commonly found in males, females can also be carriers of the gene mutation and may exhibit milder symptoms.
Facial features: Individuals with AAS often have a round face with a broad forehead, droopy eyelids, widely spaced eyes (hypertelorism), a small nose with a broad nasal bridge, and a widow's peak hairline.
Short stature: AAS is associated with a delayed growth spurt, resulting in individuals being shorter than average. However, final adult height can vary.
Hand abnormalities: People with AAS may have short fingers, a single crease in the palm (simian crease), and a wide space between the first and second toes (sandal gap).
Genital abnormalities: Males with AAS may have an undescended testicle (cryptorchidism) or a downwardly displaced urethral opening (hypospadias).
Skeletal abnormalities: Some individuals with AAS may have joint hypermobility, meaning their joints can move beyond the normal range of motion. They may also have a curved spine (scoliosis) or an abnormal curvature of the pinky fingers (clinodactyly).
Diagnosing AAS involves a thorough physical examination, evaluation of medical history, and genetic testing. A clinical geneticist or a healthcare professional experienced in genetic disorders can assess the presence of characteristic features and order genetic tests to confirm the diagnosis.
It is important to note that the severity of AAS can vary widely among individuals. Some may have mild symptoms that go unnoticed, while others may experience more pronounced features. Additionally, individuals with AAS may also have learning disabilities, attention deficit hyperactivity disorder (ADHD), or other behavioral issues.
If you suspect that you or someone you know may have Aarskog-Scott Syndrome, it is crucial to consult with a healthcare professional for a proper evaluation and diagnosis. They can provide appropriate guidance, support, and management strategies tailored to the individual's specific needs.
