Familial monosomy 7 syndrome

Orpha code: 495930OMIM code: 252270

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.

Disease data
Classification

Disease

ORPHA code
495930
OMIM code
252270
ICD10 code
D46.7
ICD11 code
-

No additional description.

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