Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 2 (SSFSC2)

Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 2, also known as short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, is related to short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 and pilomatrixoma. An important gene associated with Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 2 is SCUBE3 (Signal Peptide, CUB Domain And EGF Like Domain Containing 3), and among its related pathways/superpathways are Extracellular matrix organization and Human Embryonic Stem Cell Pluripotency. Affiliated tissues include bone, and related phenotypes are short nose and anteverted nares