Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 1 (SSFSC1)
OMIM number: 617877
Comments closing date: 15/06/2026
Short stature, facial dysmorphism and skeletal anomalies with or without cardiac anomalies 1
(SSFSC1) is a rare inherited condition that mainly affects growth, appearance of the face, and the
bones. People with this condition are usually shorter than expected and may have differences in
the shape of the face, mouth, teeth, fingers, ribs or spine. Some people also have heart problems or abnormal heart rhythms, while others are less severely affected. Intelligence is usually not
affected. There is no cure, but treatment can help manage individual problems, for example surgery or specialist care for heart, breathing, hearing, dental or bone issues. The severity can vary, even within the same family. SSFSC1 is usually caused by a change in the BMP2 gene and is inherited in an autosomal dominant way.
