Velocardiofacial syndrome.
Velocardiofacial syndrome is a syndrome of multiple anomalies that include cleft palate, cardiac defects, learning difficulties, speech disorder and characteristic facial features. It has an estimated incidence of 1 in 5000. The majority of cases have a microdeletion of chromosome 22q11.2. The phenotype of this condition shows considerable variation, not all the principal features are present in each case. Identification of the syndrome can be difficult as many of the anomalies are minor and present in the general population.
Pike
A C
AC
Department of Clinical Genetics, Royal Manchester Children's Hospital, Pendlebury, UK.
Super
M
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics*; D004700:Endocrine System Diseases / Q000235:genetics; D019066:Facies; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D008297:Male; D013577:Syndrome