Living with Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
A rare genetic syndrome with discolored, worn teeth, short stature, hearing loss, and mild intellectual disability.
Understanding Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
Teeth have opalescent discoloration and heavy wear, with delayed eruption and root canals that gradually close. Other features include proportionate short stature, hearing loss, mild intellectual disability, and facial differences. Osteoporosis and mild flattening of the spine bones have also been reported.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Dentinogenesis imperfecta (weak, discolored teeth)
- Delayed eruption of teeth
- Mild intellectual disability
- Osteoporosis
- Flattened vertebrae (platyspondyly)
- Prominent nasal bridge
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, ear, nose, and throat specialists, genetic specialists and gum, teeth and mouth specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists); Gum, teeth and mouth specialists (odontologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD doesn't name a gene. It lists autosomal recessive inheritance, so a child inherits a changed copy of the gene from each parent.
Also known as: dentinogenesis imperfecta-short stature-deafness-intellectual disability syndrome; dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome.
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