Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome

Orpha code: 2866OMIM code:

Definition

A rare developmental defect during embryogenesis malformation syndrome characterized by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978.

Disease data
Classification

Malformation syndrome

Synonyms
Short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome
Zespół Thonga, Douglasa i Ferrante
Thong-Douglas-Ferrante syndrome
ORPHA code
2866
OMIM code
-
ICD10 code
Q87.1
ICD11 code
LD2H.Y

No additional description.

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