A few have had hip reconstruction surgery.
Most kids have trouble straightening out their elbows, and a small number had tenotomy surgery performed. In Australia, the description of the arm position is called "kangaroo arms." |
Most kids' hands (and feet) have lots of loose skin (cutis laxa), and are very flexible, and tend to turn away from the midline (ulnar deviation - towards the ulna bone in the forearm). The flexibility makes it hard for them to build up fine-motor strength in their hands
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The ribs are unusually shaped, which may explain why many of the children don't go through a crawling phase, even with therapeutic intervention. Several children have 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 pose difficulties. 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. |
THERAPIES
Our kids respond very well to Occupational and Physical Therapy (OT and PT); and early intervention (something that in the US is 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-normal tongues (macroglossia). |
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| Speech therapy (ST) is strongly recommended, as the children do 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. |
VISION
A higher-than-average number of kids are myopic (near-sighted), often with lateral-beating nystagmus (the eyes jiggle - horizontally), and some have strasbismus (cross-eyes). Except for some kids having delayed vision (several parents talked about being fooled by their child's effective use of hearing to mask their visual delay!), most visual issues appear to be correctible with glasses. |
THE HEART Just about all our kids have heart issues, but this can be anything from mild arrhythmia to such severe HCM (Hypertrophic Cardiomyopathy) that the child dies from it (not common). Because of this, it is recommended that your child get an echocardiogram done to rule out any problems. An article by Angela Lin and associates,
Further delineation of cardiac abnormalities in Costello syndrome, |
published in the American Journal of Medical Genetics in 2002, will give your doctor medical justification for this test.
CANCER There have been around 18 published cases of cancer or about 18% of the documented kids. Karen Gripp and associates' 2002 article,
Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol, |
In the American Journal of Medical Genetics is a good resource. We urge you NOT to be worried about cancer before testing, because the odds are still smaller than one in five (1:5).
Some screening tests, like for neuroblastoma (using a urine sample) actually have more false positives, so they could make us worry needlessly. The most common cancer is embryonal rhabdomyosarcoma (RMS), which has no screening test.
Lisa Schoyer (a mom) is very interested in collecting information about this, so if your child does develop embryonal RMS, please contact her. She would appreciate all the data that can be gathered, in order to be as accurate as possible. |
