Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
Synonyms: Short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome | Thong-Douglas-Ferrante syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
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Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome?
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