Living with Pancytopenia-developmental delay syndrome
A rare inherited condition in which the bone marrow slowly stops making blood cells, with learning difficulties and a small head.
Understanding Pancytopenia-developmental delay syndrome
Over time, the bone marrow makes fewer red cells, white cells, and platelets. People also have developmental delay with learning disabilities, and a smaller head size (microcephaly). Mild facial differences and low muscle tone have been reported. GARD lists the onset as the teenage years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bone marrow failure
- Anemia (low red blood cells)
- Low platelet count (thrombocytopenia)
- Low white blood cell count
- Small head (microcephaly)
- Low muscle tone in newborns
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.
- 3Consider genetic testing
Changes in ERCC6L2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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 rare disease patient organizations for support
- 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 ERCC6L2 gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: bone marrow failure syndrome 2; bone marrow failure syndrome type 2; trilineage bone marrow failure-developmental delay syndrome
Patient organizations
Rare-disease groups that can help
- 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 Pancytopenia-developmental delay syndrome.
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