Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies

Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, (SSFSC; MIM 617877) is an autosomal dominant condition caused by mutations in the BMP2 gene. Characteristic craniofacial features include midface hypoplasia, a short nose with anteverted nares, long philtrum, and palatal anomalies. Additional craniofacial features may include temporal narrowing, broad forehead, low-set, posteriorly rotated ears, thin upper lip, and dental crowding. Phalangeal abnormalities are characteristic for SSFSC. Other skeletal findings may include 11 pairs of ribs, prominent sternum or pectus excuvatum, and spondylolisthesis. Cardiac findings, such as transposition of the great arteries, pulmonary valve stenosis, Ebstein anomaly, ventricular septal defect, and cardiac arrhythmias are also relatively common.