Parent booklet - page 4


A higher-than-average number of children are myopic (near-sighted), often with lateral-beating nystagmus (the eyes jiggle – horizontally), and some have strasbismus (cross-eyes).   Except for some children 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.

Many children have a hard time walking down stairs or stepping across different- patterned floors, because they have difficulty interpreting the lower “quadrants” of their field of vision.  Parents of children who receive vision therapy report that their child responded well to it.

Just about all our children 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 Dr. 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.



Though there have been around 18 published cases of cancer, several children have since been tested molecularly for Costello syndrome.  The revised risk is about 15%.  Dr. 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, but an important lesson was learned after its publication.  The neuroblastoma screening (using a urine sample), actually has more false positives, so they could make us worry needlessly.  Dr. Gripp wrote in a follow-up article, Elevated catecholamine metabolites in patients with Costello syndrome in 2004, recommends not using this screening method because of the false- positives.

The most common cancer is rhabdomyosarcoma (RMS), an abdominal ultrasound is recomended as a screening test every 6 months.  Lisa Schoyer (a mom) is very interested in collecting information about this, so if your child does develop RMS, please contact her.  She would appreciate all the data that can be gathered, in order to be as accurate as possible.  she can be contacted via this link. We urge you NOT to worry too much about cancer before thorough testing, because the odds are still smaller than one in five (1:5).  Also, with the recommended screenings that have been done after 2004, cancers that have been found have been in earlier stages of malignancy, have given children a better chance of surviving the cancer.


Your child’s doctor may talk about papillomata – wartlike skin growths, because they are described in the literature.  These may start to show on your child starting at age 2, or they may never show up.  Doctors do recommend that any skin eruption be tested to distinguish between papillomata, which can be benign tumors, and wart-like ‘lesions.’ Some children develop Acanthosis Nigricans, the darkening of the skin.  Dermatologists’ treatments for this appear to work fine, for the most part.  Itchy skin, from mild to extreme (very frustrating!), is also a common problem.

There appear to be increasing numbers of newly diagnosed children with seizures -- but we don't have enough data to link it to Costello syndrome.  This may be something that's showing up in addition to the Costello syndrome effect.  One child had seizures that went away when surgery was done on her Chiari malformation (a deformity in the brain where the brain and the spinal cord connect) -- which, before the surgery, wasn't clearly the source of the seizure.  If more parents report on this, we will have better information from which to prove or disprove a link!


Our children are “globally developmentally delayed,” but they generally eventually reach all the childhood milestones.  Thank goodness for their “warm, social personalitiesoften described in publications -- when it kicks in (usually after the gastrointestinal issues start getting resolved).  It seems that wherever they go, they endear people to them.   And their sense of humour – mature beyond their developmental age – helps us help them through the tough times.  Have you noticed?

A typical child with Costello syndrome may see many doctors, including (but not limited to)

  • a geneticist
  • a gastroenterologist
  • a cardiologist
  • an orthopaedist 
  • an endocrinologist
  • a neuro-ophthalmologist
  • a pulmonologist
  • an ENT (ear, nose and throat) specialist
  • a pediatric dentist specializing in craniofacial deformities
  • a neurologist 
  • a developmental pediatrician 
  • in addition to the primary pediatrician

Our children are amazingly tough survivors