1. Neonatal & Newborn Conditions
Respiratory Distress Syndrome (RDS) – Surfactant deficiency in preterm infants
Transient Tachypnea of the Newborn (TTN) – Delayed fluid clearance in lungs
Meconium Aspiration Syndrome (MAS) – Aspiration of meconium-stained amniotic fluid
Necrotizing Enterocolitis (NEC) – Premature infants, pneumatosis intestinalis
Erythroblastosis Fetalis (Hemolytic Disease of Newborn) – Rh/ABO incompatibility
Neonatal Jaundice – Physiologic vs. pathologic (kernicterus risk)
Congenital Infections (TORCH) – Toxo, Rubella, CMV, HSV, Syphilis
2. Cardiology
Ventricular Septal Defect (VSD) – Most common congenital heart defect
Atrial Septal Defect (ASD) – Fixed, wide split S2
Patent Ductus Arteriosus (PDA) – Continuous "machine-like" murmur
Tetralogy of Fallot (TOF) – Cyanosis, boot-shaped heart, "tet spells"
Coarctation of the Aorta – Upper extremity HTN, radio-femoral delay
Kawasaki Disease – Fever + mucocutaneous findings, coronary aneurysms
Acute Rheumatic Fever – Jones criteria, mitral regurgitation
3. Infectious Diseases
Bronchiolitis (RSV) – Wheezing in infants, supportive care
Croup (Parainfluenza) – Barking cough, steeple sign
Epiglottitis (H. influenzae type B) – Drooling, tripod positioning
Pertussis (Bordetella pertussis) – Paroxysmal cough, post-tussive vomiting
Scarlet Fever (Group A Strep) – Sandpaper rash, strawberry tongue
Hand, Foot, and Mouth Disease (Coxsackievirus A16) – Vesicular rash
Varicella (Chickenpox) – Crops of vesicles, avoid aspirin (Reye’s)
Infectious Mononucleosis (EBV) – Atypical lymphs, splenomegaly
4. Gastroenterology
Pyloric Stenosis – Non-bilious projectile vomiting, olive mass
Intussusception – Currant jelly stools, target sign on US
Hirschsprung Disease – Absent ganglion cells, distal bowel obstruction
Celiac Disease – Anti-tTG, villous atrophy, resolves with gluten-free diet
Gastroesophageal Reflux Disease (GERD) – Recurrent emesis, irritability
Acute Appendicitis – RLQ pain, McBurney’s point tenderness
5. Nephrology
Post-Streptococcal Glomerulonephritis (PSGN) – Hematuria, HTN, edema
Hemolytic Uremic Syndrome (HUS) – E. coli O157:H7, triad (anemia, thrombocytopenia, AKI)
Nephrotic Syndrome (Minimal Change Disease) – Proteinuria, hypoalbuminemia, edema
Vesicoureteral Reflux (VUR) – Risk factor for recurrent UTIs
6. Endocrinology
Congenital Hypothyroidism – Hypotonia, macroglossia, delayed development
Type 1 Diabetes Mellitus (DKA) – Polyuria, polydipsia, weight loss
Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency) – Salt-wasting crisis, ambiguous genitalia
Growth Hormone Deficiency – Short stature, delayed bone age
7. Hematology/Oncology
Iron-Deficiency Anemia – Microcytic, hypochromic, pica
Sickle Cell Disease – Dactylitis, acute chest syndrome, stroke risk
Acute Lymphoblastic Leukemia (ALL) – Most common childhood cancer
Neuroblastoma – Adrenal mass, opsoclonus-myoclonus syndrome
Wilm’s Tumor (Nephroblastoma) – Abdominal mass, hemihypertrophy
8. Neurology
Febrile Seizures – Simple vs. complex, no long-term sequelae
Absence Seizures – 3 Hz spike-and-wave, staring spells
Duchenne Muscular Dystrophy – Gower’s sign, X-linked, elevated CK
Cerebral Palsy – Non-progressive motor deficits, perinatal hypoxia
Spina Bifida (Myelomeningocele) – Folate deficiency prevention
9. Genetics & Syndromes
Down Syndrome (Trisomy 21) – Duodenal atresia, AVSD, hypotonia
Turner Syndrome (45,X) – Webbed neck, coarctation, short stature
Klinefelter Syndrome (47,XXY) – Tall stature, gynecomastia
Fragile X Syndrome – Macroorchidism, intellectual disability
Prader-Willi Syndrome – Hyperphagia, hypotonia (paternal deletion)
Angelman Syndrome – Happy demeanor, ataxia (maternal deletion)
Marfan Syndrome – Fibrillin defect, aortic dissection, lens dislocation
Neurofibromatosis Type 1 – Café-au-lait spots, Lisch nodules
10. Respiratory & Allergy
Asthma – Reversible wheezing, beta-agonists for acute attacks
Cystic Fibrosis – Chloride sweat test, Pseudomonas infections
Foreign Body Aspiration – Unilateral wheezing, R > L mainstem
11. Dermatology
Atopic Dermatitis (Eczema) – Dry, itchy skin, "allergic triad"
Impetigo (Staph/Strep) – Honey-crusted lesions
Tinea Capitis – Scalp scaling, alopecia, treat with griseofulvin
12. Rheumatology
Juvenile Idiopathic Arthritis (JIA) – Morning stiffness, uveitis risk
Henoch-Schönlein Purpura (HSP) – Palpable purpura, IgA vasculitis
13. Miscellaneous
Reye Syndrome – Aspirin + viral illness, liver failure
Sudden Infant Death Syndrome (SIDS) – Back-to-sleep positioning
Failure to Thrive (FTT) – Organic vs. non-organic causes