Orphanet: Thong Douglas Ferrante syndrome
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Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome

Disease 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.

ORPHA:2866

Classification level: Disorder
  • Synonym(s):
    • Short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome
    • Thong-Douglas-Ferrante syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q87.1
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: 4841
  • MedDRA: -
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