Cause: It is an inherited disorder that is linked to the X chromosome. More common in males, however females can also suffer from a milder form. Caused by mutations of the gene faciogenital dysplasia (FGD1)
Symptoms: Include:
- Delayed sexual maturity
- Delayed teeth
- Height of below average
- Mental health problems such as ADHD (attention deficit hyperactivity disorder)
- Middle of face undeveloped- distinct facial features: widely spaced eyes, small nose and a long length between the nose and mouth
- Short fingers and toes with mild webbing
- Hernia in the groin (Inguinal hernia)
- Testicles that have not descended
- Decreased cognitive development
Diagnosis: Usually a doctor will examine the child for features of Aarskog-Scott
Syndrome and ask about family history, and if the condition is believed to be present they may order for genetic testing of the FGD1 gene or X-rays
Age of onset: Childhood. Most the time, the disease is not recognised until the child is around three years old, as the stunted growth would not always be particularly obvious in the first few years of life
Treatment: There is not treatment for the disease itself however orthodontic treatment can help with facial abnormalities, surgery to remove the hernia, and testicular surgery to allow them to descend.
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