Familial monosomy 7 syndrome
ORPHA:495930· ICD-10 D46.7
Definition
A rare neoplastic disease characterized by infantile to childhood onset of evidence of bone marrow insufficiency/failure associated with increased risk for myelodysplastic syndrome or acute myeloid leukemia. Most patients present with petechiae, easy bruising, or anemia. Rapid progression is common, and prognosis is generally poor.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Childhood, Infancy