Overview
Familial monosomy 7 syndrome is a rare blood disorder where the bone marrow — the spongy tissue inside your bones that makes blood cells — loses one copy of chromosome 7 in some or all of its cells. Normally, people have two copies of chromosome 7 in every cell. When one copy is missing in bone marrow cells, it disrupts the normal production of blood cells and greatly increases the risk of developing serious blood cancers, especially a type of bone marrow failure called myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This condition is also sometimes called familial MDS/AML with monosomy 7. The syndrome tends to run in families, meaning multiple relatives may be affected across generations. It can appear in children or adults, though it often shows up earlier in life compared to non-familial forms of MDS. Common symptoms include frequent infections, unusual bruising or bleeding, and persistent tiredness caused by low blood cell counts. Some people also develop an enlarged spleen. Treatment focuses on managing the blood disorder and reducing cancer risk. The only potentially curative option is a stem cell transplant (also called a bone marrow transplant), which replaces the faulty bone marrow with healthy donor cells. Regular monitoring by a blood specialist is essential for all people with this condition, even before symptoms appear.
Key symptoms:
Extreme tiredness and weakness due to low red blood cell counts (anemia)Frequent or severe infections due to low white blood cell countsEasy bruising or unusual bleeding due to low platelet countsEnlarged spleen causing discomfort or a feeling of fullness in the abdomenPale skinShortness of breath with normal activitiesFever without a clear causeBone marrow failureDevelopment of myelodysplastic syndrome (MDS)Risk of progressing to acute myeloid leukemia (AML)
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Familial monosomy 7 syndrome.
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Specialists
View all specialists →No specialists are currently listed for Familial monosomy 7 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 Familial monosomy 7 syndrome.
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Caregiver Resources
NORD Caregiver Resources
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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 gene mutation is causing this in our family, and what does that mean for other relatives?,Should other family members be tested, and how soon?,How often do I need blood tests and bone marrow checks?,At what point would you recommend a stem cell transplant, and how do we find a donor?,What warning signs should make me go to the emergency room right away?,Are there any clinical trials I or my family member might be eligible for?,What support services are available to help our family cope with this diagnosis?
Common questions about Familial monosomy 7 syndrome
What is Familial monosomy 7 syndrome?
Familial monosomy 7 syndrome is a rare blood disorder where the bone marrow — the spongy tissue inside your bones that makes blood cells — loses one copy of chromosome 7 in some or all of its cells. Normally, people have two copies of chromosome 7 in every cell. When one copy is missing in bone marrow cells, it disrupts the normal production of blood cells and greatly increases the risk of developing serious blood cancers, especially a type of bone marrow failure called myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This condition is also sometimes called familial MDS/AML wit
How is Familial monosomy 7 syndrome inherited?
Familial monosomy 7 syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.