Living with Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
An extremely rare inherited condition affecting skin color, hair, teeth, growth, and learning, noticed in newborns.
Understanding Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
It involves patchy skin coloring present from birth, fewer teeth than usual, and sparse hair. People also have delayed growth and puberty and intellectual disability. GARD notes no further descriptions in medical papers since 1961.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Patchy skin coloring
- Fewer teeth than usual (hypodontia)
- Short stature
- Intellectual disability
- Delayed puberty
- Thick skin on the palms and soles
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 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
- Brain and nervous system specialists (neurologists); 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
A child inherits a changed copy of the gene from each parent (autosomal recessive). GARD does not name a gene.
Also known as: berlin syndrome; ectodermal dysplasia berlin type; ectodermal dysplasia, berlin type; leukomelanoderma, infantilism, intellectual disability, hypodontia, hypotrichosis
Patient organizations
- National Foundation for Ectodermal DysplasiasLeukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome.
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