neutropenia-monocytopenia-deafness syndrome
ORPHA: 2690
Overview
Neutropenia-monocytopenia-deafness syndrome is characterised by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections.
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with neutropenia-monocytopenia-deafness syndrome, sourced from HPO and Orphanet clinical annotations.
Sensorineural hearing impairmentAbnormality of neutrophilsAbnormal macrophage morphologyAbnormality of immune system physiology
Classification & Codes
Orphanet Code
ORPHA:2690neutropenia-monocytopenia-deafness syndrome
| Orphanet | ORPHA:2690 |
| Treatments | 0 drug(s) |
| Symptoms on record | 4 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO