Overview
Malformative syndrome with dentinogenesis imperfecta is an extremely rare genetic condition that combines structural birth defects (malformations) with a specific dental problem called dentinogenesis imperfecta. Dentinogenesis imperfecta is a disorder of tooth development where the dentin — the hard layer beneath the enamel that makes up most of the tooth structure — does not form properly. This causes teeth to appear discolored (often amber, blue-gray, or brownish), to be weaker than normal, and to wear down or break easily. In this particular syndrome, the dental problems occur alongside other body malformations, which may affect the skeleton, face, or other organ systems depending on the specific genetic cause. Patients with this condition typically notice dental abnormalities in both baby teeth and permanent teeth. The teeth may look translucent or oddly colored and can chip or fracture with normal use. The additional malformations vary from person to person but may include skeletal abnormalities, facial differences, or other developmental features. Because this is such a rare condition, the full spectrum of symptoms is not completely understood. Treatment is mainly supportive and focuses on protecting and restoring the teeth through dental procedures such as crowns, bonding, or dentures, while also addressing any other malformations through appropriate medical or surgical care. A team of specialists is usually needed to manage the different aspects of this syndrome.
Key symptoms:
Discolored teeth (amber, blue-gray, or brown)Teeth that chip, crack, or wear down easilyTranslucent or see-through appearance of teethWeak tooth enamel and dentinTooth loss earlier than expectedSkeletal abnormalitiesFacial differences or unusual facial featuresShort stature or growth problemsBone fragility or easy fracturesJoint problems or loose joints
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Malformative syndrome with dentinogenesis imperfecta.
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Specialists
View all specialists →No specialists are currently listed for Malformative syndrome with dentinogenesis imperfecta.
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 Malformative syndrome with dentinogenesis imperfecta.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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 specific genetic testing should be done to confirm the diagnosis?,How can we best protect my child's teeth from further damage?,What other body systems should be monitored for problems?,Are there any clinical trials or research studies we could participate in?,What is the long-term outlook for my child's dental health and overall development?,Should other family members be tested for this condition?,What specialists should be part of our care team?
Common questions about Malformative syndrome with dentinogenesis imperfecta
What is Malformative syndrome with dentinogenesis imperfecta?
Malformative syndrome with dentinogenesis imperfecta is an extremely rare genetic condition that combines structural birth defects (malformations) with a specific dental problem called dentinogenesis imperfecta. Dentinogenesis imperfecta is a disorder of tooth development where the dentin — the hard layer beneath the enamel that makes up most of the tooth structure — does not form properly. This causes teeth to appear discolored (often amber, blue-gray, or brownish), to be weaker than normal, and to wear down or break easily. In this particular syndrome, the dental problems occur alongside oth
At what age does Malformative syndrome with dentinogenesis imperfecta typically begin?
Typical onset of Malformative syndrome with dentinogenesis imperfecta is childhood. Age of onset can vary across affected individuals.