Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome

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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. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version July 2024

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Clinical Trials

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