Living with Amelogenesis imperfecta type 1E
An inherited tooth condition in which enamel varies in thickness and hardness, and the teeth may look small.
Understanding Amelogenesis imperfecta type 1E
It is a hypoplastic type, in which the enamel's thickness and hardness vary. In some people, the teeth look small. The enamel can be smooth or rough and looks different from the rest of the tooth on X-rays.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thin or underdeveloped tooth enamel
- Upper and lower front teeth that don't overlap (open bite)
- Small-looking teeth
- Enamel that looks different on X-rays
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Expert lists: National Foundation for Ectodermal Dysplasias
- 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 National Foundation for Ectodermal Dysplasias
- 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
Changes in the AMELX gene cause this condition, and it follows an X-linked pattern of inheritance.
Also known as: aih1; amelogenesis imperfecta caused by mutation in amelx; amelogenesis imperfecta hypomaturationtype with snow-capped teeth; amelogenesis imperfecta type ie; amelogenesis imperfecta x-linked 1; amelogenesis imperfecta, hypomaturation type, with snow-capped teeth
Patient organizations
- National Foundation for Ectodermal DysplasiasAmelogenesis imperfecta type 1E · United States
You are more than your diagnosis
Perspectives from people navigating life with Amelogenesis imperfecta type 1E.
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