Living with Johnson neuroectodermal syndrome
A rare genetic condition with thin or missing hair, a reduced sense of smell, hearing loss from ear differences, and delayed puberty.
Understanding Johnson neuroectodermal syndrome
Features include sparse hair or hair loss, reduced or no sense of smell, hearing loss with ear differences, low sex hormone function (hypogonadism), and more dental cavities. Some people also have facial asymmetry, cleft palate, facial nerve palsy, heart defects, skin spots, or developmental delay. It is noticed in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Sparse hair, eyebrows, and eyelashes
- Reduced or no sense of smell
- Hearing loss from ear canal differences
- Small or protruding ears
- Low sex hormone function (hypogonadism)
- More 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 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
GARD says changes in genes (also called variants) cause this condition. It is autosomal dominant, meaning one changed copy of the gene is enough.
Also known as: aadh syndrome; alopecia-anosmia-conductive hearing loss-hypogonadism syndrome; alopecia-anosmia-deafness-hypogonadism syndrome; alopecia, anosmia, deafness, hypogonadism syndrome; johnson mcmillin syndrome; johnson-mcmillin syndrome
Patient organizations
- National Foundation for Ectodermal DysplasiasJohnson neuroectodermal syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Johnson neuroectodermal syndrome.
Explore research for Johnson neuroectodermal syndrome
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