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.