Comprehensive Pediatrics Glossary

H

  • Hemangioma: Benign vascular tumor, commonly appearing as a red birthmark.

  • Hemophilia A & B: X-linked bleeding disorders caused by deficiency of clotting factor VIII (A) or IX (B).

  • Hemolytic Disease of the Newborn (HDN): Destruction of fetal red blood cells due to maternal-fetal blood group incompatibility.

  • Hemolytic Uremic Syndrome (HUS): Acute renal failure, thrombocytopenia, and hemolytic anemia, often post-diarrheal infection.

  • Hepatitis B/C: Viral infections affecting the liver, potentially chronic.

  • Hip Dysplasia: Abnormal formation of the hip joint, leading to dislocation risk.

  • Hydrocephalus: Excess cerebrospinal fluid accumulation in the brain ventricles causing head enlargement.

  • Hyperbilirubinemia: Excess bilirubin in the blood, leading to neonatal jaundice.

  • Hypercalcemia: Elevated blood calcium levels, potentially causing cardiac and neurologic symptoms.

  • Hyperthyroidism: Excess thyroid hormone production causing tachycardia, weight loss, and hyperactivity.

  • Hypocalcemia: Low blood calcium levels, which can cause tetany or seizures in neonates.

  • Hypoglycemia: Low blood sugar levels, causing irritability, lethargy, or seizures.

  • Hypotonia: Reduced muscle tone, often seen in neurological or genetic disorders.

  • Hypospadias: Congenital abnormality where the urethral opening is on the underside of the penis.

  • Hypovolemia: Decreased blood volume, often causing shock.

I

  • Immune Thrombocytopenic Purpura (ITP): Autoimmune destruction of platelets causing bruising and bleeding.

  • Imperforate Anus: Congenital absence of a normal anal opening.

  • Inborn Errors of Metabolism (IEM): Genetic disorders affecting metabolic pathways, such as phenylketonuria (PKU).

  • Infectious Mononucleosis: Viral infection caused by Epstein-Barr virus, presenting with fever, sore throat, and lymphadenopathy.

  • Infantile Spasms (West Syndrome): Seizure disorder in infants, often associated with developmental delay.

  • Interstitial Lung Disease: Group of lung disorders causing inflammation and fibrosis.

  • Intussusception: Telescoping of one part of the intestine into another, causing obstruction.

  • Iron Deficiency Anemia: Reduced hemoglobin levels due to inadequate iron intake or absorption.

  • Isovaleric Acidemia: Rare metabolic disorder affecting leucine metabolism.

J

  • Jaundice: Yellowing of the skin and eyes due to elevated bilirubin.

  • Juvenile Idiopathic Arthritis (JIA): Chronic arthritis affecting children under 16 years.

  • Juvenile Dermatomyositis: Inflammatory muscle disease in children causing muscle weakness and skin rash.

  • Jervell and Lange-Nielsen Syndrome: Genetic disorder causing congenital long QT syndrome and deafness.

K

  • Kawasaki Disease: Vasculitis of medium-sized arteries, presenting with fever, rash, and mucocutaneous changes.

  • Klinefelter Syndrome: Genetic disorder in males with an extra X chromosome, leading to hypogonadism and learning difficulties.

  • Krabbe Disease: Lysosomal storage disorder causing progressive neurological deterioration.

  • Kyphosis: Excessive outward curvature of the spine.

  • Keratitis: Inflammation of the cornea.

L

  • Laryngomalacia: Floppiness of the laryngeal tissue causing stridor in infants.

  • Legg-Calvé-Perthes Disease: Avascular necrosis of the femoral head causing hip pain and limping.

  • Leukemia: Malignancy of white blood cells affecting bone marrow and peripheral blood.

  • Lichen Planus: Inflammatory skin disorder causing purplish, itchy lesions.

  • Lipoma: Benign fatty tumor.

  • Lissencephaly: Rare brain malformation with smooth cerebral cortex causing severe developmental delay.

  • Long QT Syndrome: Cardiac ion channel disorder causing prolonged repolarization and risk of sudden death.

  • Lupus Nephritis: Renal involvement in systemic lupus erythematosus.

M

  • Measles (Rubeola): Highly contagious viral infection causing fever, cough, conjunctivitis, and rash.

  • Meconium Aspiration Syndrome: Respiratory distress in neonates due to inhalation of meconium-stained fluid.

  • Meningitis: Inflammation of the meninges, often bacterial or viral.

  • Metabolic Acidosis: Excess acid in the body due to metabolic disorders.

  • Microcephaly: Small head circumference due to abnormal brain development.

  • Minimal Change Disease: Common cause of nephrotic syndrome in children.

  • Mononucleosis: Viral infection causing fever, sore throat, and lymphadenopathy.

  • Mucopolysaccharidoses: Group of lysosomal storage disorders affecting connective tissues.

  • Multicystic Dysplastic Kidney: Congenital malformation of the kidney with cyst formation.

  • Myasthenia Gravis: Autoimmune neuromuscular disorder causing muscle weakness.

N

  • Neonatal Sepsis: Systemic infection in newborns, potentially life-threatening.

  • Nephrotic Syndrome: Proteinuria, hypoalbuminemia, hyperlipidemia, and edema in children.

  • Nephritic Syndrome: Hematuria, hypertension, and mild proteinuria due to glomerular inflammation.

  • Neuroblastoma: Malignant tumor arising from neural crest cells.

  • Neutropenia: Low neutrophil count increasing infection risk.

  • Niemann-Pick Disease: Lysosomal storage disorder causing hepatosplenomegaly and neurodegeneration.

  • Noonan Syndrome: Genetic disorder causing short stature, congenital heart defects, and dysmorphic features.

  • Necrotizing Enterocolitis (NEC): Intestinal tissue death in preterm infants.

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