Living with Onychotrichodysplasia and neutropenia
A rare condition for which GARD doesn't yet have detailed information.
Understanding Onychotrichodysplasia and neutropenia
GARD does not currently have detailed information on this condition. Its Information Specialists can help you find information and resources and offer individual support on your diagnostic journey. GARD lists autosomal recessive inheritance.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet.
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
Your doctor may refer you to a specialist who knows rare conditions.
- 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
- A doctor familiar with rare conditions, plus specialists as needed
- 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
- 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 doesn't describe a cause for this condition yet. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: onycho-tricho-dysplasia-neutropenia syndrome
Patient organizations
- National Foundation for Ectodermal DysplasiasOnychotrichodysplasia and neutropenia · United States
You are more than your diagnosis
Perspectives from people navigating life with Onychotrichodysplasia and neutropenia.
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