Cardiac Anamolies
In hypoplastic left heart syndrome, this fetal opening must stay patent in order for oxygenated blood to circulate
What is patent ductus arteriosus?
This Factor Deficiency is inherited in an X-linked recessive pattern
What is Factor VIII deficiency? (Hemophilia A)
This is the most common type of developmental delay
What is global delay?
This pediatric cancer often causes a distended abdomen and typically is seen in young childhood
What is Wilm's Tumor? (nephroblastoma) 90% survival rate, usually only one kidney affected
This disorder was the first to be screened for in newborns. It causes cognitive decline, spasticity and seizures.
What is PKU (phenylketonuria)
Four heart defects cause cyanosis in newborns with this disorder
What is tetralogy of Fallot? (VSD, pulmonary stenosis, overriding aorta, and RVH)
This type of hemophilia is also called Christmas Disease
What is Hemophilia B, Factor IX deficiency
This screening test should be done in any child being evaluated for developmental delays
What is a hearing test, or audiology exam?
This is the most common pediatric cancer. Survival rates are highest in children over age 1 and under 10. Bone pain and fatigue are common presenting symptoms
What is acute lymphoblastic leukemia? (85% survival rate, some genetic markers associated with poor prognosis)
This disorder causes liver and renal failure after the start of milk feeds in the first week of life
What is galactosemia?
Children with Trisomy 21 may have this heart defect
What is a complete AV canal?
This autosomal recessive disorder of misshapen red blood cells causes pain crises, splenic sequestration, anemia, and infections, among other things.
What is sickle cell disease?
Teens who are not adequately treated for this disorder are more likely to engage in antisocial behavior, use substances, and experience a MVC
What is ADHD?
These cancers are the second most coomon cancers in children
What are brain cancers? (gliomas, astrocytomas, meduloblastomas)
This glycogen storage disease causes failure to thrive, hypotonia, and cardiomyopathy
What is Pompe disease? (Glycogen storage type II)
This is the most common congenital heart defect, affecting 1 in 100 babies
What is a VSD?
In children, this disorder commonly follows a viral illness. It is an immune reaction of the body against platelets.
What is idiopathic thrombocytopenic purpura? In children this is usually self-limited
This disorder is commonly first seen as ADHD, with later onset of motor and vocal tics
What is Tourette's Syndrome?
Racoon eyes (periorbital bruising) are a sign of this pediatric cancer
What is neuroblastoma?
Fatty acid oxidation disorders all cause problems regulating this essential carbohydrate
What is glucose? Hypoglycemia is a presenting symptom and worse with infections or fasting
This is the main cause of sudden death in teen athletes
What is hypertrophic cardiomyopathy?
This autosomal dominant clotting disorder is associated with a low level of protein necessary for platelets to stick together
What is Von Willebrand disease? Milder than Factor VIII deficiency but often have lower levels of VIII also. Less commonly, autosomal recessive and then quite severe
This disorder used to be categorized under several names. It is now under one umbrella term. Advocates sometimes state it is not truly a disorder, but just a difference in how the brain engages with the world. It is NOT caused by vaccines.
What is autism spectrum disorder?
This high grade cancer typically starts in the legs or pelvis, and is most common in youth ages 10-20 years
What is Ewings sarcoma?
Organic acidemias often cause high levels of this to be produced by the liver
What is ammonia?