short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
ORPHA: 2866
Overview
Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome is characterised by short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent 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 short stature-deafness-neutrophil dysfunction-dysmorphism syndrome, sourced from HPO and Orphanet clinical annotations.
Sensorineural hearing impairmentGlaucomaCraniosynostosisMutismNeoplasmShort statureEctopic anusAbnormality of immune system physiology
Classification & Codes
Orphanet Code
ORPHA:2866short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
| Orphanet | ORPHA:2866 |
| Treatments | 0 drug(s) |
| Symptoms on record | 8 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO