Living with Amelocerebrohypohidrotic syndrome
A rare inherited condition with weak tooth enamel, seizures starting in infancy, and intellectual disability that may worsen.
Understanding Amelocerebrohypohidrotic syndrome
Its three main features are amelogenesis imperfecta (tooth enamel that doesn't form well), epilepsy starting in infancy, and intellectual disability, with or without loss of skills and dementia. It can start anywhere from birth to childhood. GARD notes that more than one gene can be involved.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weak tooth enamel (amelogenesis imperfecta)
- Seizures
- Severe intellectual disability
- Loss of earlier skills (developmental regression)
- Dementia
- Reduced sweating (hypohidrosis)
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, genetic specialists, gum, teeth and mouth specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in ROGDI are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Gum, teeth and mouth specialists (odontologists); Skin, hair, and nail specialists (dermatologists)
- 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 and other patient organizations
- 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 ROGDI gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: epilepsy and yellow teeth; epilepsy-dementia-amelogenesis imperfecta syndrome; epilepsy, dementia and amelogenesis imperfecta; epilepsy, dementia, and amelogenesis imperfecta; epilepsy, mental deterioration and yellow teeth; kohlschutter syndrome
Patient organizations
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Amelocerebrohypohidrotic syndrome.
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