Living with Paris-Trousseau thrombocytopenia
A rare genetic condition with low platelet counts, mild bleeding, and facial differences, noticed in newborns and infants.
Understanding Paris-Trousseau thrombocytopenia
Platelets are blood cells that help blood clot. In this condition the platelet count varies, and platelets have abnormal large granules. People also have certain facial features. It is called a contiguous gene syndrome because several neighboring genes are involved. Signs are seen in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Mild tendency to bleed
- Low platelet count (thrombocytopenia)
- Intellectual disability
- Heart differences
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 blood and bone marrow specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Chromosome Disorder Outreach
- 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
Changes in the genes (also called variants) cause this condition. GARD describes it as a contiguous gene syndrome, which means several neighboring genes are affected.
Also known as: chromosome 11q23 deletion syndrome; tcpt; thrombocytopenia, paris-trousseau type, isolated cases
Patient organizations
- Chromosome Disorder OutreachChromosome disorders · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Paris-Trousseau thrombocytopenia.
Explore research for Paris-Trousseau thrombocytopenia
Explore actively recruiting Paris-Trousseau thrombocytopenia studies with HealthSpark.
Find actively recruiting studies for Paris-Trousseau thrombocytopenia with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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