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Start free with EleplanFanconi anemia
ORPHA:84Malformation syndrome
Also called Fanconi pancytopenia
What it is
A rare genetic multisystem disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.
Key facts
- Prevalence
- 1-9 / 1 000 000 (Europe)
- Age of onset
- Childhood
- Inheritance
- Autosomal recessive, X-linked recessive
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
13- Abnormality of blood and blood-forming tissues
- Abnormality of chromosome stability
- Abnormality of skin pigmentation
- Abnormality of the upper limb
- Abnormal thumb morphology
- Anemia
- Aplasia/Hypoplasia of the radius
- Hypopigmented skin patches
- Irregular hyperpigmentation
- Leukopenia
- Pyridoxine-responsive sideroblastic anemia
- Short stature
- Thrombocytopenia
Common30–79%
10These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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