What is the management approach for a child or young adult with Steel syndrome, presenting with short stature, characteristic facial features, and skeletal abnormalities?

Steel Syndrome Management

Steel syndrome requires a multidisciplinary conservative approach prioritizing orthopedic surveillance over aggressive surgical intervention, as attempts at hip reduction have consistently poor outcomes with increased complications and pain compared to observation alone. 1

Diagnosis and Genetic Confirmation

Steel syndrome is an autosomal recessive skeletal disorder caused by biallelic mutations in COL27A1. 2, 3, 4

Key diagnostic features include:

• Short stature (present in 100% of genetically confirmed cases) 2
• Bilateral hip dislocation/subluxation (present in 100% of cases) 2, 1
• Radial head dislocation 2, 1
• Carpal coalition 2, 1
• Characteristic facial dysmorphism 2, 1
• Scoliosis and/or lordosis 2, 1

Additional features to assess:

• Cleft palate (newly recognized feature) 2
• Delayed carpal bone ossification 2
• Sensorineural hearing loss 2, 4
• Fifth finger clinodactyly 2
• Knee deformities including genu valgum and patellar dislocation 2, 5
• Developmental delay 2
• Cavus feet 1

Genetic testing should include:

• Whole exome sequencing or targeted COL27A1 sequencing to identify pathogenic variants 3, 4, 5
• Consider large deletion/duplication analysis, as maternal deletions encompassing multiple exons can be challenging to detect 5

Orthopedic Management

Hip Dislocation Management

Do NOT attempt surgical reduction of dislocated hips in Steel syndrome. 1

The evidence is unequivocal: In a cohort of 64 hips, 61% underwent attempted reduction with various modalities, resulting in 85% remaining dislocated with complications. 1 Patients whose hips were not treated reported fewer complaints and better function in daily activities compared to those who had reduction attempts. 1

Recommended approach:

• Observe dislocated hips without surgical intervention 1
• Monitor for pain and functional limitations 1
• Provide supportive care and adaptive equipment as needed 1

Other Skeletal Manifestations

For radial head dislocations:

• Conservative management with observation 1
• Monitor range of motion and functional limitations 2

For scoliosis:

• Serial radiographic monitoring 2, 1
• Orthotic management if progression occurs 1
• Surgical intervention only for severe progressive curves affecting cardiopulmonary function 1

For carpal coalition:

• Baseline skeletal survey before age 5 years to document skeletal abnormalities 2
• Monitor for delayed carpal bone ossification 2

Growth Management

Short stature is universal in Steel syndrome and requires endocrinology evaluation. 2

• Refer to pediatric endocrinology for growth assessment 2
• Plot growth parameters on standard growth charts at each visit 2
• Consider growth hormone evaluation if severe growth failure is present, though efficacy in Steel syndrome is unknown 2
• Provide high-energy diet with adequate protein if nutritional deficiencies are identified 2

Multidisciplinary Subspecialty Care

Audiology:

• Baseline hearing assessment, as sensorineural hearing loss occurs in Steel syndrome 2, 4
• Serial audiometry every 6 months in early childhood 4

Genetics:

• Genetic counseling regarding autosomal recessive inheritance pattern 3, 4
• Family screening for carrier status 3, 4

Plastic Surgery/Craniofacial (if cleft palate present):

• Immediate referral to multidisciplinary cleft palate team 2
• Specialized feeding support with appropriate bottles/nipples 2
• Cleft palate repair typically around age 1 year 2

Developmental Pediatrics:

• Baseline developmental assessment, as developmental delay can occur 2
• Early intervention services if delays are identified 2

Orthopedics:

• Ongoing monitoring of skeletal manifestations 1
• Management of knee deformities and patellar dislocations as needed 5

Critical Pitfalls to Avoid

The most critical error is attempting surgical reduction of dislocated hips. 1 This leads to worse outcomes with increased pain, complications, and persistent dislocation in 85% of cases compared to conservative management. 1

Other pitfalls:

• Failing to obtain genetic confirmation, which guides family counseling and confirms diagnosis 3, 4
• Missing hearing loss, which compounds developmental delays if untreated 2, 4
• Overlooking cleft palate, which requires immediate specialized feeding support and surgical planning 2
• Inadequate growth monitoring, as short stature is universal and may benefit from endocrine intervention 2

Prognosis and Quality of Life

Patients with Steel syndrome who avoid aggressive surgical interventions for hip dislocations report better functional outcomes and fewer limitations in daily activities. 1 The condition is primarily orthopedic with good cognitive outcomes in most cases, though developmental delay can occur. 2 Life expectancy appears normal based on available literature. 2, 1