Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
Definition
Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome is characterized by short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections).
Also known as thong-Douglas-Ferrante syndrome — per MONDO