Living with Ectodermal dysplasia-syndactyly syndrome
A rare inherited condition with sparse or missing hair, small cone-shaped teeth, thick skin on the palms and soles, and webbed fingers and toes.
Understanding Ectodermal dysplasia-syndactyly syndrome
People have sparse to absent scalp hair, eyebrows, and eyelashes. Teeth are widely spaced and cone- or peg-shaped, with thin enamel. The skin on the palms and soles is thickened. Fingers and toes are partly joined by skin (syndactyly). Signs show up in the newborn and infant years.
Signs & symptoms
GARD doesn't list specific symptoms for this condition separately, but the summary describes these features:
- Sparse or missing scalp hair, eyebrows, and eyelashes
- Widely spaced, cone-shaped teeth
- Thin tooth enamel
- Thick skin on the palms and soles
- Partly joined fingers and toes (syndactyly)
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 NECTIN4 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 says changes in the NECTIN4 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: ectodermal dysplasia syndactyly syndrome; ectodermal dysplasia-syndactyly syndrome type 1; edss; edss1
Patient organizations
- National Foundation for Ectodermal DysplasiasEctodermal dysplasia-syndactyly syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Ectodermal dysplasia-syndactyly syndrome.
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