Short septum, bulbous nose, depressed nasal tip, and epicanthus. Joint laxity, hip dislocation, and patella and hip dislocation. Scoliosis and spina bifida occulta. Low posterior hairline, generalized hirsutism, and nail hypoplasia. Occasional congenital heart anomalies include auricular septal defect, ventricular septal defect, single ventricle with common atrium, patent ductus arteriosus, and coarctation of the aorta.
Precocious puberty occurs in some cases.
Transmitted as an autosomal dominant trait. Most earlier cases were reported in Japanese children but the syndrome is now known to affect other racial and ethnic groups.