An autosomal dominant syndrome of uveal colobomata, cleft lip and palate, and mental retardation.
This report details a family in whom there is autosomal dominantly inherited uveal colobomata, associated eye defects, and cleft lip and palate occurring in twelve subjects over three generations. Considerable variability in expression of the gene is apparent, uveal colobomata being the most constant feature, and the full syndrome probably includes mental retardation of varying degree. The possibility of association with neural tube defect is discussed.
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002648:Child; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D003103:Coloboma / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009436:Neural Tube Defects / Q000235:genetics; D010375:Pedigree; D013577:Syndrome; D014602:Uvea / Q000002:abnormalities*