Overview
Congenital insensitivity to pain with severe intellectual disability is an extremely rare genetic condition in which a person is born unable to feel physical pain and also has significant difficulties with thinking, learning, and reasoning. The inability to feel pain means that injuries, burns, and infections can go unnoticed, leading to repeated trauma and complications that can be serious or even life-threatening. Children with this condition may bite their tongue, lips, or fingers without realizing they are hurting themselves. Broken bones, cuts, and burns may not be detected until visible damage is apparent. The severe intellectual disability means that affected individuals typically have very limited speech and communication abilities, difficulty with self-care, and require lifelong support for daily activities. Some individuals may also have other neurological features. Because this is such a rare condition, treatment is mainly supportive and focused on preventing injuries, managing complications, and providing developmental support. There is currently no cure or specific therapy that restores the ability to feel pain or reverses the intellectual disability. A multidisciplinary care team is essential to help manage the many challenges these patients and their families face.
Also known as:
Key symptoms:
Inability to feel pain from birthSevere intellectual disabilityDelayed speech and language developmentSelf-injurious behavior such as biting fingers, lips, or tongueRepeated unnoticed injuries including fractures and burnsDelayed motor milestones like sitting and walkingDifficulty with self-care and daily activitiesSkin wounds and scars from unrecognized injuriesInfections from untreated woundsJoint damage from repeated unnoticed traumaLimited or absent communication skillsBehavioral difficulties
Clinical phenotype terms (29)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
1 eventDuraclon: FDA approved
In combination with opiates for the treatment of severe pain in cancer patients that is not adequately relieved by opioid analgesics alone.
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableDuraclon
In combination with opiates for the treatment of severe pain in cancer patients that is not adequately relieved by opioid analgesics alone.
Clinical Trials
View all trials with filters →No actively recruiting trials found for Congenital insensitivity to pain with severe intellectual disability at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Congenital insensitivity to pain with severe intellectual disability.
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 Congenital insensitivity to pain with severe intellectual disability.
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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 genetic testing should be done to confirm the diagnosis?,How can we best protect our child from injuries they cannot feel?,What developmental therapies are recommended and how often?,How should we monitor for hidden injuries or infections at home?,Are there any clinical trials or research studies we should know about?,What specialists should be part of our child's care team?,What is the long-term outlook for our child, and how can we plan for their future care needs?
Common questions about Congenital insensitivity to pain with severe intellectual disability
What is Congenital insensitivity to pain with severe intellectual disability?
Congenital insensitivity to pain with severe intellectual disability is an extremely rare genetic condition in which a person is born unable to feel physical pain and also has significant difficulties with thinking, learning, and reasoning. The inability to feel pain means that injuries, burns, and infections can go unnoticed, leading to repeated trauma and complications that can be serious or even life-threatening. Children with this condition may bite their tongue, lips, or fingers without realizing they are hurting themselves. Broken bones, cuts, and burns may not be detected until visible
How is Congenital insensitivity to pain with severe intellectual disability inherited?
Congenital insensitivity to pain with severe intellectual disability follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Congenital insensitivity to pain with severe intellectual disability typically begin?
Typical onset of Congenital insensitivity to pain with severe intellectual disability is neonatal. Age of onset can vary across affected individuals.