Overview
Johnson neuroectodermal syndrome is a very rare condition that affects multiple parts of the body that develop from a layer of cells called the neuroectoderm during early fetal growth. This syndrome is also sometimes referred to as Johnson syndrome or neuroectodermal syndrome of Johnson type. It belongs to a group of conditions called neuroectodermal syndromes, which affect the skin, hair, nervous system, and other related tissues. People with this condition typically have a combination of features that can include abnormalities of the scalp hair, missing or underdeveloped teeth, hearing loss, and problems with the nervous system. The face may also look different from typical, and some individuals have intellectual disability or developmental delays. Because the syndrome affects several body systems at once, a team of different specialists is usually needed to manage care. There is currently no cure for Johnson neuroectodermal syndrome. Treatment focuses on managing individual symptoms, supporting development, and improving quality of life. Early intervention with therapies such as speech, occupational, and physical therapy can make a meaningful difference for affected children. Hearing aids or other assistive devices may help those with hearing loss.
Also known as:
Key symptoms:
Sparse or absent scalp hair (alopecia)Missing or abnormally shaped teeth (hypodontia or anodontia)Hearing loss (sensorineural type)Intellectual disability or learning difficultiesDevelopmental delaysDistinctive facial featuresAbnormalities of the nailsSkin changes or abnormal skin textureSmall head size (microcephaly) in some casesProblems with sweating
Clinical phenotype terms (27)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Johnson neuroectodermal syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Johnson neuroectodermal syndrome at this time.
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Specialists
View all specialists →No specialists are currently listed for Johnson neuroectodermal syndrome.
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 Johnson neuroectodermal syndrome.
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 genetic tests should we do to confirm the diagnosis and find the gene responsible?,Which specialists should be part of our care team, and how often should we see each one?,What therapies would you recommend starting right away to support my child's development?,Are there any clinical trials or research studies we could participate in?,What signs or symptoms should prompt us to seek urgent medical attention?,How can we connect with other families affected by this condition?,What educational supports and accommodations should we ask for at school?
Common questions about Johnson neuroectodermal syndrome
What is Johnson neuroectodermal syndrome?
Johnson neuroectodermal syndrome is a very rare condition that affects multiple parts of the body that develop from a layer of cells called the neuroectoderm during early fetal growth. This syndrome is also sometimes referred to as Johnson syndrome or neuroectodermal syndrome of Johnson type. It belongs to a group of conditions called neuroectodermal syndromes, which affect the skin, hair, nervous system, and other related tissues. People with this condition typically have a combination of features that can include abnormalities of the scalp hair, missing or underdeveloped teeth, hearing loss
How is Johnson neuroectodermal syndrome inherited?
Johnson neuroectodermal syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Johnson neuroectodermal syndrome typically begin?
Typical onset of Johnson neuroectodermal syndrome is neonatal. Age of onset can vary across affected individuals.