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
Centre Hospitalier Universitaire St. Justine Research Center, 
Montreal, QC, CA 

Philippe Campeau practices in Montreal, Canada. Mr. Campeau is rated as an Elite expert by MediFind in the treatment of DOOR Syndrome. His top areas of expertise are DOOR Syndrome, Craniofacial-Deafness-Hand Syndrome, Micrognathia, and Deafness Craniofacial Syndrome.

Advanced in DOOR Syndrome
Hematology Oncology | Hematology | Oncology
Advanced in DOOR Syndrome
Hematology Oncology | Hematology | Oncology

Wk Hematology Oncology Associates

2600 Kings Hwy, Suite 340, 
Shreveport, LA 
Languages Spoken:
English
Accepting New Patients

Joyce Feagin is a Hematologist Oncology specialist and a Hematologist in Shreveport, Louisiana. Dr. Feagin is rated as an Advanced provider by MediFind in the treatment of DOOR Syndrome. Her top areas of expertise are Inflammatory Breast Cancer, Colorectal Cancer, Familial Colorectal Cancer, and Paget Disease of the Breast. Dr. Feagin is currently accepting new patients.

 
 
 
 
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Cheng Her
Experienced in DOOR Syndrome
Family Medicine
Experienced in DOOR Syndrome
Family Medicine

Viaro Professional Arts Ltd Health Care

230 Pine St, 
La Crosse, WI 
Languages Spoken:
English

Cheng Her is a primary care provider, practicing in Family Medicine in La Crosse, Wisconsin. Dr. Her is rated as an Experienced provider by MediFind in the treatment of DOOR Syndrome. His top areas of expertise are Cerebral Palsy, Char Syndrome, Vici Syndrome, and Cohen Syndrome.

What are the latest DOOR Syndrome Clinical Trials?
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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center