familial monosomy 7 syndrome (MONDO_0044645, a Monarch Disease Ontology identifier) is 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. Also known as: monosomy 7 myelodysplasia and leukaemia syndrome, monosomy 7 myelodysplasia and leukemia syndrome.