Frequently Asked Questions

1. Which doctor should I consult for Alström syndrome?

You should consult your family physician when you begin to notice infants with vision problems. Your doctor will examine the clinical symptoms, medical history, and family history before recommending diagnostic tests and subsequent contact with a specialist.

2. Do those with Alström syndrome die early?

If you suffer from prolonged liver, kidney or heart disease that develops due to Alström syndrome, death may occur.

3. Explain aromatase excess syndrome?

Aromatase excess syndrome is due to excess female hormone estrogen in males and females. Fertility is not affected but males tend to have enlarged breasts, are short as adults, and bones develop at an early age.

4. Explain hyperestrogenism?

Familial hyperestrogenism is another name for aromatase excess syndrome.

5. What is the frequency of occurrence of Alström syndrome?

Alström syndrome is very rare and occurs at a rate of 1 person in 1 million people.

6. What other conditions are confused with Alström syndrome?

Early-onset dilated cardiomyopathy, achromatopsia, Bardet-Biedl syndrome, inherited mitochondrial disorders, Wolfram syndrome, Usher syndrome, Cohen syndrome, Leber congenital amaurosis, are conditions that are sometimes misdiagnosed as Alström syndrome.

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