Overview
Dermoodontodysplasia is an extremely rare genetic condition that affects the skin, teeth, and sometimes other body structures. The name comes from 'dermo' (skin), 'odonto' (teeth), and 'dysplasia' (abnormal development). People with this condition typically have problems with their skin, such as dry, thin, or fragile skin, and significant dental abnormalities including missing teeth, small teeth, or teeth that are poorly formed. The condition is present from birth or early childhood and belongs to a group of disorders sometimes called ectodermal dysplasias, which affect tissues that develop from the outer layer of the embryo. Because dermoodontodysplasia is so rare, with only a handful of cases described in the medical literature, knowledge about the full range of symptoms and the best treatments is limited. There is currently no cure for this condition. Treatment focuses on managing symptoms, which may include dental care such as dentures or implants, skin care routines to protect fragile skin, and regular monitoring by a team of specialists. Early dental intervention can greatly improve quality of life, including the ability to eat properly and maintain self-confidence. Genetic counseling is recommended for affected families to understand the inheritance pattern and risks for future children.
Key symptoms:
Missing or poorly formed teethSmall or unusually shaped teethDry or thin skinFragile skin that damages easilySparse or thin hairAbnormal nailsReduced sweatingSmooth or shiny skin textureDelayed tooth eruptionDifficulty chewing due to dental problems
Clinical phenotype terms (16)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Dermoodontodysplasia.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Dermoodontodysplasia at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Dermoodontodysplasia.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Dermoodontodysplasia.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific dental treatments does my child need now, and what will they need as they grow?,Are there genetic tests available that could confirm the diagnosis or identify the exact gene involved?,How should I care for my child's skin on a daily basis?,Does my child have reduced sweating, and if so, what precautions should we take?,What is the chance that future children could also have this condition?,Are there any clinical trials or research studies we could participate in?,Can you refer us to a team of specialists experienced with ectodermal dysplasias?
Common questions about Dermoodontodysplasia
What is Dermoodontodysplasia?
Dermoodontodysplasia is an extremely rare genetic condition that affects the skin, teeth, and sometimes other body structures. The name comes from 'dermo' (skin), 'odonto' (teeth), and 'dysplasia' (abnormal development). People with this condition typically have problems with their skin, such as dry, thin, or fragile skin, and significant dental abnormalities including missing teeth, small teeth, or teeth that are poorly formed. The condition is present from birth or early childhood and belongs to a group of disorders sometimes called ectodermal dysplasias, which affect tissues that develop fr
How is Dermoodontodysplasia inherited?
Dermoodontodysplasia follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Dermoodontodysplasia typically begin?
Typical onset of Dermoodontodysplasia is childhood. Age of onset can vary across affected individuals.