Velocardiofacial syndrome.
Velocardiofacial syndrome is one of the most common multiple-anomaly syndromes in humans. With its many otolaryngologic manifestations and its almost ubiquitous effects on speech, language, hearing, immune dysfunction, and airway problems, velocardiofacial syndrome may be the most common genetic disorder seen by pediatric otolaryngologists. Individuals affected with velocardiofacial syndrome look essentially normal making identification of the syndrome difficult, especially in infants. It is critical for otolaryngologists to be familiar with the symptom complex associated with velocardiofacial syndrome so as to understand the unique manifestations of this complex disorder.
Shprintzen
R J
RJ
Center for the Diagnosis, Treatment, and Study of Velo-Cardio-Facial Syndrome, Department of Otolaryngology and Communication Science, Upstate Medical University, Syracuse, New York, USA.
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000503:physiopathology; D000293:Adolescent; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000503:physiopathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome