Living with Hypoplastic enamel-onycholysis-hypohidrosis syndrome
A form of ectodermal dysplasia, with missing or small teeth and nail differences.
Understanding Hypoplastic enamel-onycholysis-hypohidrosis syndrome
GARD gives a short description. Listed features include missing or cone-shaped teeth, late tooth eruption, and brittle, small, or ridged nails. It begins in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Missing teeth (hypodontia)
- Cone-shaped teeth
- Delayed tooth eruption
- Brittle, ridged nails
- Small fingernails and toenails
- Fine hair
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, gum, teeth and mouth specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in MSX1 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
- 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 MSX1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: ectodermal dysplasia 3, tooth/nail type; ectodermal dysplasia 3, witkop type; hnd; hypodontia and nail dysplasia; hypodontia with nail dysplasia; hypodontia-dysplasia of nails syndrome
Patient organizations
- National Foundation for Ectodermal DysplasiasHypoplastic enamel-onycholysis-hypohidrosis syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
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