Overview
Syndromic constitutional thrombocytopenia is a rare inherited blood disorder where a person is born with a low number of platelets — the tiny blood cells that help stop bleeding. Unlike thrombocytopenia that develops later in life due to illness or medication, this condition is present from birth and is caused by changes (mutations) in a person's genes. What makes it 'syndromic' is that the low platelet count comes along with other health problems affecting different parts of the body, such as the skeleton, kidneys, immune system, or development. Because platelets are essential for normal blood clotting, people with this condition often bruise easily, bleed longer than usual after cuts or injuries, and may experience nosebleeds or bleeding gums. In more serious cases, internal bleeding can occur. The additional features that come with the syndrome vary widely depending on which gene is affected, and can include birth defects, growth problems, or increased risk of certain cancers. Treatment is tailored to each person and depends on the specific genetic cause and associated features. Options may include platelet transfusions during bleeding episodes or surgery, medications to boost platelet production, and in some cases bone marrow transplantation. Regular monitoring by a team of specialists is an important part of managing this condition throughout life.
Key symptoms:
Low platelet count present from birthEasy or excessive bruisingProlonged bleeding from cuts or minor injuriesFrequent nosebleedsBleeding gumsSmall red or purple spots on the skin (petechiae)Heavy menstrual bleeding in femalesBone or skeletal abnormalities (depending on subtype)Kidney problems (depending on subtype)Immune system problems or frequent infections (depending on subtype)Hearing loss (in some subtypes)Developmental delays or intellectual disability (in some subtypes)Increased risk of blood cancers such as leukemia (in some subtypes)Abnormal facial features or birth defects (in some subtypes)
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Syndromic constitutional thrombocytopenia.
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Specialists
View all specialists →No specialists are currently listed for Syndromic constitutional thrombocytopenia.
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 Syndromic constitutional thrombocytopenia.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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.Which specific gene is causing my (or my child's) condition, and what does that mean for treatment and long-term health?,How often should platelet counts be monitored, and at what level should I seek emergency care?,Are there medications or activities I need to avoid because of the low platelet count?,Is bone marrow transplantation an option for my specific subtype, and what are the risks and benefits?,What is the risk of developing a blood cancer, and how will we monitor for that?,Should other family members be tested for this condition?,Are there any clinical trials or new treatments I should know about?
Common questions about Syndromic constitutional thrombocytopenia
What is Syndromic constitutional thrombocytopenia?
Syndromic constitutional thrombocytopenia is a rare inherited blood disorder where a person is born with a low number of platelets — the tiny blood cells that help stop bleeding. Unlike thrombocytopenia that develops later in life due to illness or medication, this condition is present from birth and is caused by changes (mutations) in a person's genes. What makes it 'syndromic' is that the low platelet count comes along with other health problems affecting different parts of the body, such as the skeleton, kidneys, immune system, or development. Because platelets are essential for normal blo
At what age does Syndromic constitutional thrombocytopenia typically begin?
Typical onset of Syndromic constitutional thrombocytopenia is neonatal. Age of onset can vary across affected individuals.