Living with Ectodermal dysplasia-sensorineural deafness syndrome
A very rare inherited condition with brittle, sparse hair, hearing loss, and bent little fingers.
Understanding Ectodermal dysplasia-sensorineural deafness syndrome
GARD says it has been described in a brother and sister born to parents who are related. Hidrotic ectodermal dysplasia affects the hair, nails, and skin while sweating is typically normal. People have inner ear hearing loss and a contracture (permanent bend) of the fifth fingers. The girl also had scoliosis. It begins in infancy or childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss (sensorineural)
- Brittle, coarse, or sparse hair
- Bent fifth fingers (contracture)
- Scoliosis or hunched back
- Thickened skin (hyperkeratosis)
- Dental cavities
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 ear, nose, and throat 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
- Ear, nose, and throat specialists (otolaryngologists); 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 a person's genes cause this condition. GARD notes the likely inheritance is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: ectodermal dysplasia and neurosensory deafness; ectodermal dysplasia-sensorineural hearing loss syndrome
Patient organizations
- National Foundation for Ectodermal DysplasiasEctodermal dysplasia-sensorineural deafness 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-sensorineural deafness syndrome.
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