Overview
Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome is a very rare genetic condition that affects multiple parts of the body at the same time. It is sometimes referred to by its Orphanet code ORPHA:71267. The condition is best known for causing dentinogenesis imperfecta, which means the teeth do not form properly. Affected teeth are often discolored (appearing blue-gray or amber-brown), weaker than normal, and wear down much faster than healthy teeth. This can cause significant dental pain and problems with eating. Beyond the teeth, people with this syndrome tend to be shorter than average for their age (short stature), experience some degree of hearing loss, and have intellectual disability, which means learning and development may be slower or more challenging than typical. The combination of all four of these features together is what defines this syndrome. There is currently no cure for this condition. Treatment focuses on managing each symptom separately. Dental care is a major priority, often involving protective crowns, dentures, or other dental work to preserve function and reduce pain. Hearing aids or other hearing support can help with hearing loss. Educational support and therapies such as speech therapy and occupational therapy can make a meaningful difference for intellectual and developmental challenges. A team of different specialists is usually needed to provide the best care.
Key symptoms:
Teeth that are discolored (blue-gray, yellow, or amber-brown)Teeth that break, chip, or wear down easilyShorter height than expected for ageHearing loss (can range from mild to severe)Intellectual disability or learning difficultiesDelayed speech and language developmentDental pain or sensitivityProblems chewing food due to damaged teeth
Clinical phenotype terms (11)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome.
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Specialists
View all specialists →No specialists are currently listed for Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability 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 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability 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 genetic tests should we do to confirm the diagnosis and find the specific gene involved?,Which dental specialist has the most experience treating dentinogenesis imperfecta, and how often should we schedule visits?,What type of hearing support is best for my child's level of hearing loss — hearing aids or something else?,What early intervention or therapy programs do you recommend to support learning and development?,Are there any clinical trials or research studies we could participate in?,Should we test other family members for this condition?,What signs or symptoms should prompt us to seek urgent medical attention?
Common questions about Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
What is Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome?
Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome is a very rare genetic condition that affects multiple parts of the body at the same time. It is sometimes referred to by its Orphanet code ORPHA:71267. The condition is best known for causing dentinogenesis imperfecta, which means the teeth do not form properly. Affected teeth are often discolored (appearing blue-gray or amber-brown), weaker than normal, and wear down much faster than healthy teeth. This can cause significant dental pain and problems with eating. Beyond the teeth, people with this syndrome
How is Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome inherited?
Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome typically begin?
Typical onset of Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome is childhood. Age of onset can vary across affected individuals.