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.

Philip L. Goolsby
Experienced in DOOR Syndrome
Family Medicine
Experienced in DOOR Syndrome
Family Medicine

Aurora Family Medicine

1565 Allouez Ave, 
Green Bay, WI 
Languages Spoken:
English

Philip Goolsby is a primary care provider, practicing in Family Medicine in Green Bay, Wisconsin. Dr. Goolsby is rated as an Experienced provider by MediFind in the treatment of DOOR Syndrome. His top areas of expertise are Monoclonal Gammopathy of Undetermined Significance (MGUS), Schnitzler Syndrome, Movement Disorders, and Parkinson's Disease.

 
 
 
 
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David S. Stolp
Experienced in DOOR Syndrome
Family Medicine
Experienced in DOOR Syndrome
Family Medicine

Aurora Family Medicine

2424 S 90th St, Ste 200, 
West Allis, WI 
Languages Spoken:
English

David Stolp is a primary care provider, practicing in Family Medicine in West Allis, Wisconsin. Dr. Stolp is rated as an Experienced provider by MediFind in the treatment of DOOR Syndrome. His top areas of expertise are Cerebral Palsy, Floating-Harbor Syndrome, Cardiomyopathy Hypogonadism Metabolic Anomalies, and Ruvalcaba 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