From the Research
Steel syndrome is a rare autosomal recessive skeletal disorder characterized by dislocations of the hips and radial heads, carpal coalition, short stature, facial dysmorphism, and scoliosis, caused by mutations in the COL27A1 gene, as reported in the most recent study 1.
Key Features of Steel Syndrome
- Dislocations of the hips and radial heads
- Carpal coalition
- Short stature
- Facial dysmorphism
- Scoliosis
- Other features include lordosis, hearing loss, bilateral fifth finger clinodactyly, knee deformities, and developmental delay
Diagnosis and Management
The diagnosis of Steel syndrome is based on clinical and radiological features, as well as genetic testing to identify mutations in the COL27A1 gene 1. Management focuses on treating orthopedic issues through surgery, physical therapy, and pain management, with a focus on improving quality of life and preventing complications.
Genetic Counseling
Genetic counseling is recommended for affected individuals and their families, as Steel syndrome follows an autosomal recessive inheritance pattern, meaning both parents must carry the mutation for a child to be affected 2.
Prognosis
The prognosis for Steel syndrome is generally poor, with limited success in treating hip dislocations and other orthopedic issues, as reported in a study on the treatment outcomes of patients with Steel syndrome 3. However, early diagnosis and management can help improve quality of life and prevent complications.
Recent Findings
Recent studies have identified new mutations in the COL27A1 gene associated with Steel syndrome, including a novel variant reported in a study published in 2023 4. These findings highlight the importance of ongoing research and genetic testing in improving our understanding and management of this rare disorder.