Steel syndrome

Steel syndrome is a rare genetic bone disease that mainly affects bone development. It is known for causing short stature, hip and radial head dislocations, and scoliosis. People with this condition often show unique facial features such as a broad forehead, broad nasal bridge, and widely spaced eyes. Other features include carpal coalition (where the wrist bones are fused), a high-arched foot (pes cavus), and a potential risk of atlantoaxial subluxation. In some cases, bilateral sensorineural hearing loss has also been observed. These characteristics help in recognizing the condition.

Common symptoms of Steel syndrome include short stature, bilateral congenital hip dislocation, radial head dislocation, scoliosis, and carpal coalition. Other signs are a high-arched foot, potential atlantoaxial subluxation, and distinctive facial features such as a broad forehead, broad nasal bridge, and hypertelorism. Some people may also experience hearing loss.

Steel syndrome is caused by changes in a gene called COL27A1. These genetic changes affect bone development and lead to the physical signs of this condition. Being a genetic disorder, Steel syndrome is inherited in families.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research is currently limited for this condition.