Living with Ameloonychohypohidrotic syndrome
A rare condition affecting tooth enamel, nails, and sweating, with no new descriptions in the medical literature since 1975.
Understanding Ameloonychohypohidrotic syndrome
It combines weak, thin tooth enamel, nails that lift from the nail bed with thickened skin under them, and reduced sweating. Other features include a dry, scaly scalp, rough dry skin, and sometimes missing tear duct openings. GARD says there have been no further descriptions in the literature since 1975.
Signs & symptoms
Symptoms vary. GARD lists these among the most common:
- Weak or thin tooth enamel
- Nail differences
- Nails that lift off the nail bed
- Reduced sweating (hypohidrosis)
- Missing teeth
- Late-coming teeth
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 genetic specialists and skin, hair, and nail specialists.
- 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
- Genetic specialists (geneticists); 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
GARD doesn't describe a cause for this condition yet.
Also known as: amelo-onycho-hypohidrotic syndrome; ameloonychohypohidrotic ectodermal dysplasia
Patient organizations
- National Foundation for Ectodermal DysplasiasAmeloonychohypohidrotic syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Ameloonychohypohidrotic syndrome.
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