Overview
Onycho-tricho-dysplasia-neutropenia syndrome is an extremely rare genetic condition that affects the nails, hair, and immune system. The name breaks down as follows: 'onycho' refers to nails, 'tricho' refers to hair, and 'dysplasia' means abnormal development. 'Neutropenia' means a low count of neutrophils, which are white blood cells that help fight infections. People with this syndrome typically have abnormal or underdeveloped nails that may be thin, ridged, or poorly formed. Hair is often sparse, thin, or brittle, and may grow slowly. The low neutrophil count makes affected individuals more vulnerable to bacterial and fungal infections, which can range from mild skin infections to more serious illnesses. This condition is present from birth or early infancy. Because it is so rare, there is no specific cure, and treatment focuses on managing symptoms. This may include careful monitoring and treatment of infections, sometimes with preventive antibiotics, and supportive care for nail and hair problems. Growth factor medications such as G-CSF (granulocyte colony-stimulating factor) may be used to boost neutrophil counts in some patients. Regular follow-up with specialists is important to manage the various aspects of this syndrome.
Also known as:
Key symptoms:
Abnormal or poorly developed nailsThin, sparse, or brittle hairLow white blood cell count (neutropenia)Frequent or recurrent infectionsSlow nail growthRidged or misshapen nailsSlow hair growthSkin infectionsMouth sores or gum infectionsPossible delayed growth
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 Onycho-tricho-dysplasia-neutropenia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Onycho-tricho-dysplasia-neutropenia 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 Onycho-tricho-dysplasia-neutropenia 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.How severe is my child's neutropenia, and how often should blood counts be checked?,Should my child take preventive antibiotics or G-CSF injections?,What signs of infection should I watch for, and when should I go to the emergency room?,Is genetic testing available to confirm the diagnosis and help with family planning?,Are there any activities or environments my child should avoid to reduce infection risk?,What can be done to help with the nail and hair problems?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Onycho-tricho-dysplasia-neutropenia syndrome
What is Onycho-tricho-dysplasia-neutropenia syndrome?
Onycho-tricho-dysplasia-neutropenia syndrome is an extremely rare genetic condition that affects the nails, hair, and immune system. The name breaks down as follows: 'onycho' refers to nails, 'tricho' refers to hair, and 'dysplasia' means abnormal development. 'Neutropenia' means a low count of neutrophils, which are white blood cells that help fight infections. People with this syndrome typically have abnormal or underdeveloped nails that may be thin, ridged, or poorly formed. Hair is often sparse, thin, or brittle, and may grow slowly. The low neutrophil count makes affected individuals more
How is Onycho-tricho-dysplasia-neutropenia syndrome inherited?
Onycho-tricho-dysplasia-neutropenia syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Onycho-tricho-dysplasia-neutropenia syndrome typically begin?
Typical onset of Onycho-tricho-dysplasia-neutropenia syndrome is neonatal. Age of onset can vary across affected individuals.