Source:http://linkedlifedata.com/resource/umls/id/C0795809
JABL: Duplication of the long arm of chromosome 3 with psychomotor retardation, characteristic facies, congenital heart anomalies, abnormal dermatoglyphic patterns, skeletal defects, and other abnormalities. The syndrome was first reported as familial de Lange syndrome (1) with chromosomal abnormalities. Manifestations of dup(3q) are similar to those in de Lange syndrome. Intrauterine growth retardation, prominent philtrum, proximally placed thumbs, oligodactyly, and phocomelia are more frequent in de Lange syndrome, whereas craniosynostosis, cleft palate, and urinary tract anomalies are more common in dup(3q).