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DOOR Syndrome / Rare Genetic Disorder

DOOR Syndrome | Rare Genetic Disorder - Frequently Asked Questions

Q: Which doctor should I consult to rule out DOOR syndrome in my child

A: You should consult a child specialist to evaluate and investigate your child to rule out DOOR syndrome

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Q: What is the lifespan of an individual with DOOR syndrome?

A: An individual with DOOR syndrome has a normal lifespan although normal intellectual ability is affected.

Q: What are the other names of DOOR syndrome?

A: DOOR syndrome is also known as DOORS syndrome; deafness, onychodystrophy, osteodystrophy, and mental retardation syndrome; deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; autosomal recessive deafness-onychodystrophy syndrome, digitorenocerebral syndrome; Eronen syndrome; and deafness-onychoosteodystrophy-intellectual disability syndrome.

Q: What conditions have symptoms similar to DOOR syndrome?

A: Coffin-Siris syndrome; Cooks syndrome; fetal alcohol syndrome, Temple-Baraitser syndrome; Zimmermann-Laband syndrome; and deafness and onychodystrophy, dominant form, are the conditions that have symptoms similar to DOOR syndrome.

Q: Is DOOR syndrome fatal?

A: No, DOOR syndrome is a genetic condition that causes physical and mental disability and persons can have normal lifespan. If seizures are severe, lifespan may be affected. In general, the individual leads a normal life with impaired intellectual capacity.

Q: Can DOOR syndrome be cured?

A: DOOR syndrome is a genetic lifelong condition and has no cure at present.

Q: What is the frequency of permanent hearing loss in newborn babies?

A: One or two newborn babies out of 1000 are affected with permanent hearing loss.


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