Overview
Temple-Baraitser syndrome (also called DOORS syndrome or Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, and Seizures syndrome) is a rare genetic condition that affects brain development and several other parts of the body. It is caused by changes (mutations) in the KCNK4 gene, which plays an important role in how brain cells communicate with each other. The condition is present from birth and affects children in many different ways. The most common features include intellectual disability (ranging from mild to severe), absent or very small fingernails and toenails, abnormal bone development in the fingers and toes, hearing loss, and seizures that can be difficult to control. Some children also have distinctive facial features, feeding difficulties in infancy, and problems with movement and coordination. The severity of symptoms can vary quite a bit from one person to another, even among people with the same genetic change. There is currently no cure for Temple-Baraitser syndrome. Treatment focuses on managing individual symptoms. This may include anti-seizure medications, hearing aids or cochlear implants, physical therapy, occupational therapy, speech therapy, and special education support. A team of different specialists usually works together to provide the best care. With the right support, many children can make meaningful developmental progress, though most will need lifelong assistance.
Key symptoms:
Intellectual disability (mild to severe)Absent or very small fingernails and toenailsAbnormal or shortened finger and toe bonesSeizures, often hard to controlHearing loss (sensorineural type)Distinctive facial features such as a broad forehead and widely spaced eyesFeeding difficulties in infancyDelayed speech and language developmentDelayed motor milestones such as sitting and walkingLow muscle tone (hypotonia)Behavioral challengesShort stature in some individuals
Clinical phenotype terms (48)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Temple-Baraitser syndrome.
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Specialists
View all specialists →No specialists are currently listed for Temple-Baraitser syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Temple-Baraitser syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What type of genetic change does my child have in the KCNK4 gene, and what does that mean for their specific outlook?,What is the best anti-seizure medication for my child's type of seizures, and what are the side effects to watch for?,Should other family members be tested for this condition, and what is the chance of it occurring again in a future pregnancy?,What therapies (physical, occupational, speech) should we start right away, and how often should they happen?,Are there any clinical trials or research studies that my child might be eligible for?,What signs should prompt me to go to the emergency room, and do we need a seizure action plan?,What support services and educational resources are available for children with this condition in our area?
Common questions about Temple-Baraitser syndrome
What is Temple-Baraitser syndrome?
Temple-Baraitser syndrome (also called DOORS syndrome or Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, and Seizures syndrome) is a rare genetic condition that affects brain development and several other parts of the body. It is caused by changes (mutations) in the KCNK4 gene, which plays an important role in how brain cells communicate with each other. The condition is present from birth and affects children in many different ways. The most common features include intellectual disability (ranging from mild to severe), absent or very small fingernails and toenails, abnormal bo
How is Temple-Baraitser syndrome inherited?
Temple-Baraitser syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Temple-Baraitser syndrome typically begin?
Typical onset of Temple-Baraitser syndrome is neonatal. Age of onset can vary across affected individuals.