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Velocardiofacial syndrome
1Center for the Diagnosis, Treatment, and Study of Velo-Cardio-Facial Syndrome, Department of Otolaryngology and Communication Science, Upstate Medical University, Syracuse, New York, USA.
Velocardiofacial syndrome (VCFS) is a common genetic disorder with numerous otolaryngologic issues affecting speech and hearing. Early recognition by pediatric otolaryngologists is crucial due to subtle physical features, especially in infants.
Area of Science:
- Genetics and Human Syndromes
- Pediatric Otolaryngology
- Developmental Biology
Background:
- Velocardiofacial syndrome (VCFS) is a frequent multiple-anomaly syndrome.
- VCFS presents with significant otolaryngologic manifestations, impacting speech, language, hearing, immunity, and airways.
- The subtle physical presentation of VCFS complicates early diagnosis, particularly in infants.
Purpose of the Study:
- To highlight the prevalence of VCFS in pediatric otolaryngology practices.
- To emphasize the importance of recognizing VCFS's diverse symptoms.
- To inform otolaryngologists about the critical need for familiarity with VCFS.
Main Methods:
- Literature review on VCFS prevalence and manifestations.
- Clinical case analysis focusing on otolaryngologic presentations.
- Synthesis of current knowledge on VCFS diagnosis and management.
Main Results:
- VCFS is a leading genetic disorder encountered by pediatric otolaryngologists.
- Otolaryngologic symptoms are nearly universal in individuals with VCFS.
- Diagnostic challenges arise from the normal appearance of affected individuals.
Conclusions:
- Pediatric otolaryngologists must be well-versed in the VCFS symptom complex.
- Early identification of VCFS is essential for appropriate patient care.
- Understanding VCFS facilitates management of its complex manifestations.
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