Living with Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
A rare genetic condition with bone marrow that gradually stops making blood cells, weaker immunity, and skeletal differences.
Understanding Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
Bone marrow failure begins early and progresses, causing anemia, low white cells, and mildly low platelets. A shortage of B cells, a type of immune cell, can raise the chance of infections. Other features include developmental delay, cataracts, unusual facial features, short stature, and skeletal differences. It starts in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bone marrow failure
- Anemia (low red blood cells)
- Low white blood cells and B cells
- Low platelets
- Frequent infections
- Short stature
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 allergy and immune system specialists, blood and bone marrow specialists, bone and joint specialists and brain and nervous system specialists.
- 3Consider genetic testing
Changes in MYSM1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Blood and bone marrow specialists (hematologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- 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 Blood Cancer United and other patient organizations
- 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
It is caused by changes in the MYSM1 gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: congenital progressive bone marrow failure, b-cell immunodeficiency, skeletal dysplasia syndrome; mysm1 (myb like, swirm and mpn domains 1) deficiency; mysm1 deficiency
Patient organizations
- Blood Cancer UnitedBlood or bone marrow disease · United States
- HealthTree FoundationBlood or bone marrow disease · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
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