To whom should an infant with achondroplasia be referred?

Multidisciplinary Referral Approach for Infants with Achondroplasia

An infant with achondroplasia should be referred to a multidisciplinary team at a specialized center with expertise in skeletal dysplasias, including a clinical geneticist, pediatric neurologist, pediatric orthopedic surgeon, and endocrinologist as core team members. 1, 2

Primary Referrals (Essential)

1. Clinical Geneticist/Medical Geneticist

   • For genetic confirmation of diagnosis
   • For genetic counseling of families
   • For coordination of multidisciplinary care
   • For education about new therapeutic options including vosoritide 1

2. Pediatric Neurologist

   • For evaluation of potential craniocervical junction compression
   • For monitoring of foramen magnum stenosis
   • For assessment of hydrocephalus risk
   • For evaluation of developmental milestones 3

3. Pediatric Orthopedic Surgeon

   • For assessment of skeletal manifestations
   • For monitoring of spinal deformities (kyphosis, lordosis)
   • For evaluation of limb alignment issues
   • For management of potential gait abnormalities 1, 2

4. Pediatric Endocrinologist

   • For growth monitoring using achondroplasia-specific growth charts
   • For evaluation of potential growth-promoting therapies
   • For monitoring of body composition and weight management
   • For assessment of vosoritide therapy eligibility 1

Secondary Referrals (As Needed)

1. Pediatric Neurosurgeon

   • For management of potential foramen magnum stenosis
   • For evaluation and management of hydrocephalus
   • For surgical intervention if medullary compression occurs 3

2. Pediatric Pulmonologist/Sleep Specialist

   • For evaluation of upper airway obstruction
   • For assessment of sleep apnea
   • For management of respiratory complications 4

3. Pediatric Otolaryngologist (ENT)

   • For management of recurrent ear infections
   • For evaluation of hearing
   • For assessment of upper airway obstruction 1

4. Pediatric Dietitian

   • For nutritional guidance
   • For weight management strategies
   • For prevention of obesity 1

Timing of Referrals

• Initial referrals to the core team (geneticist, neurologist, orthopedic surgeon, endocrinologist) should occur immediately upon diagnosis
• Early detection and genetic testing should be offered to enable early education and therapeutic intervention 1
• Neurological evaluation is particularly urgent due to the risk of craniocervical stenosis and medullary compression, which can have devastating consequences in early childhood 3

Management Considerations

1. Growth Monitoring

   • Parents should receive achondroplasia-specific growth charts
   • Regular monitoring of height, weight, and head circumference at each medical check-up 1

2. Medication Management

   • Education about vosoritide, the first approved precision therapy for achondroplasia
   • Discussion of potential benefits of early treatment initiation
   • Training on injection techniques if therapy is initiated 1, 5

3. Nutritional Management

   • Emphasis on healthy eating habits from infancy
   • Prevention of obesity through dietary guidance
   • Regular monitoring of weight using condition-specific growth charts 1

Pitfalls to Avoid

1. Delayed Neurological Assessment

   • Craniocervical junction compression can be life-threatening in early childhood
   • Neurological evaluation should not be delayed 3

2. Overlooking Family Support

   • Families need education and connection to support communities
   • Shared decision-making is essential for treatment decisions 1

3. Using Standard Growth Charts

   • Always use achondroplasia-specific growth charts
   • Standard charts will lead to inappropriate assessments 1

4. Delaying Medical Management

   • Standard of care evaluations should not be delayed due to starting treatment with vosoritide 1

The multidisciplinary approach is essential as achondroplasia affects multiple body systems and requires coordinated care to optimize outcomes and quality of life for affected infants and their families 2, 4.