Neutropenia-monocytopenia-deafness syndrome
ORPHA:2690· ICD-10 D82.8
Definition
A rare syndrome characterized by congenital neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. Patients present with severe recurrent bacterial infections that may lead to bacterial septicemia. There have been no further descriptions in the literature since 1983.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal