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Thong Douglas Ferrante syndrome

MedGen UID:
906653
•Concept ID:
C4274785
•
Disease or Syndrome
Synonyms: Short stature deafness neutrophil dysfunction; Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
SNOMED CT: Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (716192009); Thong Douglas Ferrante syndrome (716192009)
 
Monarch Initiative: MONDO:0017316
Orphanet: ORPHA2866

Definition

This syndrome has characteristics of short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections). It has been described in two siblings. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVThong Douglas Ferrante syndrome

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