The 20 Best Spondylocarpotarsal Synostosis Syndrome Doctors Near Me in amsterdam, NY

Spondylocarpotarsal synostosis (SCT) syndrome is an inherited syndrome characterized by disproportionate short stature, abnormalities of the vertebrae in the spine, scoliosis and lordosis, carpal and tarsal fusion (fusion of the bones in the hands and feet), clubfoot, and facial abnormalities such as round face, large forehead, and up-turned nostrils. Other features can include cleft palate, deafness, loose joints, and poor formation of tooth enamel. SCT syndrome has been associated with retinal anomalies and cataracts. However, these eye problems are usually not severe enough to impair vision. This condition is caused by genetic changes in the FLNB gene. It is inherited in an autosomal recessive manner in families, which means that parents are usually unaffected and children have to have inherited a genetic change from each parent.