Our children’s ribs, hands, arms, ankles, hips and spine and spinal cord are involved.The ribs are unusually shaped, which may explain why many of the children don’t go through a crawling phase, even with therapeutic intervention.
Most children’ hands (and feet) have lots of loose skin (cutis laxa), are very flexible, and tend to turn away from the midline (“ulnar deviation” – towards the ulna bone in the forearm). The hyper-flexibility makes it hard for fine-motor strength in their hands.
The appearance of our children’s hands look to be the one clear factor that separates Costello syndrome from Noonan or Cardio- Facio-Cuteo (CFC) syndromes.
Rolling, sitting and walking will be delayed. Several children have wheelchairs to help them get around school, which over time have been replaced with walkers. (They have little protection reflex if they fall.) While his protection reflex isn’t the greatest, one boy loves to play basketball and ski -- unassisted!
Many children wear ankle-foot orthotics (AFO’s or DAFO’s), and have their Achilles tendons “released.” Several children have also gotten hip tenotomies (tendon-releasing surgery), with generally good success. A few have had hip reconstruction surgery. Most children have trouble straightening out their elbows. Australians call them “kangaroo arms.”
Several children develop scoliosis (the spine curves sideways) and have braces for their backs. Some have had surgery. There are a few children whose bones are so soft that they cause complications. One child’s doctors had trouble putting in rods to correct the scoliosis because the bones were so soft. Kyphosis (the spine curves outward) is not unusual either, but the thought among orthopedists these days is to leave it alone, as the cure is worse than the problem.
Also, a few children have tethered spinal cords, and a few develop syringomyelia and Chiari 1 malformations (this is unusual!). Some need to be surgically repaired. Dr. Karen Gripp’s publication, High Incidence of Progressive Postnatal Cerebellar Enlargement in Costello Syndrome, can help your child’s orthopaedist determine how to monitor this.
Our children do very well to Occupational and Physical Therapy (OT and PT); and early intervention (in the US, provided by the public school system and state programs).
Our children’s receptive language skills appear to be much better than their expressive skills. Speech is delayed and limited. It’s probably connected to the poor oral-motor coordination overall, small mouths and slightly larger- than-typical tongues (macroglossia) and low muscle tone.
Speech therapy (ST) is strongly recommended, as the children appear to respond well. Many children learn sign language and may have communication boards to help them until (or if) their speech develops well enough.