DOOR Syndrome
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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 64 other conditions, according to our data. His clinical expertise encompasses DOOR Syndrome, Micrognathia, Craniofacial-Deafness-Hand Syndrome, and Multiple Epiphyseal Dysplasia.

Experienced in DOOR Syndrome
Experienced in DOOR Syndrome
Referral may be required
Before you request

Indian River Health Services Inc

3555 10th Ct, Suite 200a, 
Vero Beach, FL 
772-563-4673
Languages Spoken:
English
See accepted insurances
Accepting New Patients
Offers Telehealth

Jonathan Braue is a Dermatologist practicing medicine in Vero Beach, Florida. Dr. Braue is rated as an Experienced provider by MediFind in the treatment of DOOR Syndrome. He is also highly rated in 56 other conditions, according to our data. His clinical expertise encompasses Sunburn, Actinic Keratosis, Warts, and Seborrheic Keratosis. Dr. Braue is board certified in American Board Of Dermatology, 2019. Dr. Braue is currently accepting new patients.

 
 
 
 
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Experienced in DOOR Syndrome
Dr. Alan B. Chelius
Family Medicine
Experienced in DOOR Syndrome
Dr. Alan B. Chelius
Family Medicine
Before you request

Reading Hospital

420 South 5th Avenue, 
West Reading, PA 
484-628-8000
Languages Spoken:
English
See accepted insurances
Accepting New Patients

Alan Chelius is a primary care provider, practicing in Family Medicine in West Reading, Pennsylvania. Dr. Chelius is rated as an Experienced provider by MediFind in the treatment of DOOR Syndrome. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Glucocorticoid-Remediable Aldosteronism, Hypertension, Familial Hypertension, and Infant Hyperglycemia. Dr. Chelius is board certified in American Board Of Family Medicine. Dr. Chelius is currently accepting new patients.

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