DOOR Syndrome
Symptoms, Doctors, Treatments, Advances & More

DOOR Syndrome Overview

Save information for later
Sign Up

Learn About DOOR Syndrome

What is the definition of DOOR Syndrome?
Deafness onychodystrophy osteodystrophy and mental retardation (DOOR) syndrome is a rare genetic disorder that is usually recognized shortly after birth. The term DOOR is an acronym with each letter representing a common feature in affected individuals: (D)eafness due to a defect of the inner ear or auditory nerve; (O)nychodystrophy or malformation of the nails; (O)steodystrophy, meaning malformation of certain bones; and mild to profound intellectual disability (represented by the "R"). In some cases, individuals may also experience seizures. This condition is inherited in an autosomal recessive fashion; the exact genetic cause is unknown.
What are the alternative names for DOOR Syndrome?
  • DOOR syndrome
  • Autosomal recessive deafness-onychodystrophy syndrome
  • DOORS syndrome
  • Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
  • Deafness-onychoosteodystrophy-intellectual disability syndrome
  • Digitorenocerebral syndrome
Who are the top DOOR Syndrome Local Doctors?
Elite in DOOR Syndrome
Elite in DOOR Syndrome
Referral may be required
Centre Hospitalier Universitaire St. Justine Research Center, 
Montreal, QC, CA 

Philippe Campeau practices practicing medicine in Montreal, Canada. Mr. Campeau is rated as an Elite expert by MediFind in the treatment of DOOR Syndrome. He is also highly rated in 67 other conditions, according to our data. His clinical expertise encompasses DOOR Syndrome, Argininosuccinic Aciduria, Micrognathia, and Craniofacial-Deafness-Hand Syndrome.

Advanced in DOOR Syndrome
Advanced in DOOR Syndrome
Referral required

ETSU Physicians & Associates- Pediatrics

325 N State Of Franklin Rd, 
Johnson City, TN 
423-439-7320
Languages Spoken:
English
See accepted insurances
Offers Telehealth

Alvaro Russi is a Pediatrics provider practicing medicine in Johnson City, Tennessee. Dr. Russi is rated as an Advanced provider by MediFind in the treatment of DOOR Syndrome. He is also highly rated in 125 other conditions, according to our data. His clinical expertise encompasses Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication. Dr. Russi is board certified in American Board Of Pediatrics and American Board Of Medical Genetics.

 
 
 
 
Learn about our expert tiers
Learn More
Experienced in DOOR Syndrome
Dr. Donald J. Weaver
Pediatric Nephrology
Experienced in DOOR Syndrome
Dr. Donald J. Weaver
Pediatric Nephrology
Referral may be required

Atrium Health Levine Children's Nephrology

1001 Blythe Blvd., Suite C, 
Charlotte, NC 
704-381-8800
Languages Spoken:
English
See accepted insurances
Accepting New Patients
Offers Telehealth

Donald Weaver is a Pediatric Nephrologist practicing medicine in Charlotte, North Carolina. Dr. Weaver is rated as an Experienced provider by MediFind in the treatment of DOOR Syndrome. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Posterior Urethral Valves, Togaviridae Disease, Feingold Syndrome, and Congenital Nephrotic Syndrome. Dr. Weaver is board certified in American Board Of Pediatrics and American Board Of Pediatrics, Pediatric Nephrology. Dr. Weaver is currently accepting new patients.

View All Doctors
What are the latest DOOR Syndrome Clinical Trials?
Match to trials
Find the right clinical trials for you in under a minute
Get started
View All Clinical Trials
Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center