Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
OMIM number: 617877
Comments closing date: 09/02/2026
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies is a rare genetic condition caused by changes in the BMP2 gene. It is inherited in an autosomal dominant manner, meaning one altered copy of the gene is enough to cause the condition. Affected individuals often have distinctive facial features, short stature, and skeletal differences such as shortened fingers or toes. Some may also have heart problems, including congenital heart defects or rhythm disturbances. Symptoms usually appear at birth or early childhood and vary widely in severity. Management focuses on monitoring growth, heart health, and orthopaedic issues. There is no cure, but supportive care can improve quality of life.
