DOOR Syndrome | Rare Genetic Disorder - Frequently Asked Questions

Dr. Lakshmi Venkataraman
Medically Reviewed by Dr. Lakshmi Venkataraman, MD
Last Updated on Sep 20, 2018
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Frequently Asked Questions

1. Which doctor should I consult to rule out DOOR syndrome in my child

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

2. What is the lifespan of an individual with DOOR syndrome?

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

3. What are the other names of DOOR syndrome?

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.

4. What conditions have symptoms similar to DOOR syndrome?

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.

5. Is DOOR syndrome fatal?

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.

6. Can DOOR syndrome be cured?

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

7. What is the frequency of permanent hearing loss in newborn babies?

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

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