Handbook of Genetic Counseling/Achondroplasia-2

Achondroplasia

Confirm diagnosis

• Physical features
  • disproportionate short stature, shortening of the proximal segment of the limbs, prominent forehead, shallow nasal bridge, flattened midface,

average size trunk, large head relative to the body size

• Radiographs
  • contracted base of the skull, square pelvis shape with a small sacrosciatic notch, short pedicles of the vertebrae, rhizomelic (proximal) shortening of the long bones, trident hands, normal length trunk, proximal femoral radiolucency, chevron shape of the distal femoral epiphysis

Medical evaluation

• Measurements, proportions, and special growth charts
  • height arm span and lower segment
• weight
  • control eating habits to avoid obesity
• head circumference
• Infantile issues
  • airway obstruction
  • sleep apnea
• hydrocephalus
  • MRI to determine ventricular size
• upper cord compression
  • MRI of the foramen magnum

Orthopedic

• thoracolumbar kyphosis/lumbar lordosis
  • truncal weakness
• bowing of the legs
  • fibular overgrowth at the knees and ankles
• hip flexion contractures
• lumbosacral spinal stenosis
• orthodontics/crowded teeth

Neurological

• normal intelligence
• delayed motor milestones
• equal deep tendon reflexes

Hearing

• otitis media
  • conductive hearing loss
• speech evaluation

Psychosocial assessment

• Family support
  • family and friends' reactions
  • support groups
• anticipatory guidance/learning from other families

Long-term planning

• behavior and development
  • avoid gymnastics and contact sports
• socialization skills
• adaptation of the home

occupational therapy consultation

• schooling
• SSI benefits

Clinical treatments

• Growth hormone studies
• Limb-lengthening procedures

Notes

The information in this outline was last updated in 2002.