DOOR Syndrome Symptoms, Doctors, Treatments, Advances & More

DOOR Syndrome
Symptoms, Doctors, Treatments, Advances & More

DOOR Syndrome Overview

Definition
Alternate Names
Top Doctors
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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

Philippe M. Campeau

Elite in DOOR Syndrome

Philippe M. Campeau

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, Argininosuccinic Aciduria, Craniofacial-Deafness-Hand Syndrome, and Micrognathia.

Advanced in DOOR Syndrome

Dr. Alvaro H. Russi

Pediatrics

Advanced in DOOR Syndrome

Dr. Alvaro H. Russi

Pediatrics

ETSU Physicians & Associates- Pediatrics

325 N State Of Franklin Rd,

Johnson City, TN

423-439-7320

Languages Spoken:

English

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. Dr. Russi is rated as an Advanced provider by MediFind in the treatment of DOOR Syndrome. His top areas of expertise are Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication.

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Experienced in DOOR Syndrome

Dr. Donald J. Weaver

Pediatric Nephrology

Experienced in DOOR Syndrome

Dr. Donald J. Weaver

Pediatric Nephrology

Atrium Health Levine Children's Nephrology

1001 Blythe Blvd., Suite C,

Charlotte, NC

704-381-8800

Languages Spoken:

English

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Accepting New Patients

Offers Telehealth

Donald Weaver is a Pediatric Nephrologist in Charlotte, North Carolina. Dr. Weaver is rated as an Experienced provider by MediFind in the treatment of DOOR Syndrome. His top areas of expertise are Posterior Urethral Valves, Togaviridae Disease, Feingold Syndrome, and Congenital Nephrotic Syndrome. Dr. Weaver is currently accepting new patients.