Living with Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
A rare inherited condition that affects nails, teeth, and skin on the palms and soles, with darker patches in the mouth.
Understanding Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
Features include short height, poorly formed or missing nails, dark patches on the lining of the mouth or tongue, and tooth differences. The edges of the palms and soles have thick skin. Trouble swallowing with a narrowed esophagus, hearing loss, asthma, and severe iron-deficiency anemia have also been seen. GARD lists onset in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poorly formed nails (nail dystrophy)
- Thick skin on palms and soles
- Delayed or missing teeth
- Underdeveloped tooth enamel
- Trouble swallowing (dysphagia)
- Short stature
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.
- 3Consider genetic testing
Changes in GRHL2 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); 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 lists changes in the GRHL2 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: ectodermal dysplasia short stature syndrome; ectodermal dysplasia-short stature syndrome; ectodermal dysplasia/short stature syndrome; nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome; short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome; short stature, nail dysplasia, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome
Patient organizations
- National Foundation for Ectodermal DysplasiasNail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome.
Explore research for Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
Explore actively recruiting Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome studies with HealthSpark.
Find actively recruiting studies for Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.