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. This condition typically presents with congenital hip dislocation, carpal coalition, short stature, and facial features including a broad nasal bridge and widely spaced eyes 1. The management of Steel syndrome focuses on addressing orthopedic issues through surgery, physical therapy, and pain management, with no specific medication regimen for the syndrome itself, but associated symptoms like pain may be treated with standard analgesics 1.
Key Features of Steel Syndrome
- Dislocations of the hips and radial heads
- Carpal coalition
- Short stature
- Facial dysmorphism
- Scoliosis
- Hearing loss
- Bilateral fifth finger clinodactyly
- Knee deformities
- Developmental delay
Patients with Steel syndrome require multidisciplinary care involving orthopedic surgeons, geneticists, physical therapists, and other specialists 1. Early diagnosis and intervention are crucial to improve outcomes, particularly for hip dislocations which may require surgical correction in childhood 1. The condition has an autosomal recessive inheritance pattern, meaning both parents must carry a copy of the mutated gene for a child to be affected, and genetic counseling is recommended for affected families to understand inheritance risks for future pregnancies 1.
Diagnosis and Treatment
The diagnosis of Steel syndrome is based on clinical and radiologic features, as well as genetic testing to identify mutations in the COL27A1 gene 1. Treatment outcomes for hip dislocations in Steel syndrome have been reported to be dismal, with a high rate of complications and persistent dislocation or subluxation despite treatment 2. Therefore, a conservative approach to management, focusing on pain management and maintaining mobility, may be preferred in some cases. However, each patient's situation should be evaluated individually, and treatment decisions should be made in consultation with a multidisciplinary team of specialists 1.