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Start free with EleplanNeutropenia-monocytopenia-deafness syndrome
ORPHA:2690Disease
Also called Neutropenia-monocytopenia-hearing loss syndrome
What it is
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.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Unknown
- Classified as
- Disease
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%
3These 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.
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.
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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