Comprehensive Pediatrics Glossary

A

  • Achondroplasia: A genetic disorder resulting in dwarfism due to abnormal cartilage development.

  • Acetaminophen Toxicity: Overdose of acetaminophen leading to liver damage.

  • Acid-Base Disorders: Disturbances in the body’s pH balance, including acidosis and alkalosis.

  • Acrodermatitis Enteropathica: A rare zinc deficiency disorder causing dermatitis and alopecia.

  • Adrenoleukodystrophy (ALD): A genetic disorder affecting the nervous system and adrenal glands.

  • Alagille Syndrome: A genetic disorder affecting the liver, heart, and other systems.

  • Allergic Rhinitis: An allergic reaction causing sneezing, itching, and nasal congestion.

  • Alpha-1 Antitrypsin Deficiency: A genetic disorder that can lead to lung and liver disease.

  • Alport Syndrome: A genetic condition characterized by kidney disease, hearing loss, and eye abnormalities.

  • Amniotic Band Syndrome: A condition where fibrous bands in the uterus restrict fetal development.

  • Anencephaly: A severe neural tube defect resulting in the absence of major portions of the brain and skull.

  • Ankylosing Spondylitis: A type of arthritis affecting the spine and large joints.

  • Anthrax: A bacterial infection that can be transmitted from animals to humans.

  • Apert Syndrome: A genetic disorder characterized by the premature fusion of certain skull bones.

  • Apraxia of Speech: A motor speech disorder affecting the planning of speech movements.

  • Arterial Tortuosity Syndrome: A rare genetic disorder affecting the connective tissue.

  • Asperger Syndrome: A developmental disorder affecting social interaction and nonverbal communication.

  • Astigmatism: A refractive error causing blurred vision due to an irregularly shaped cornea.

  • Ataxia-Telangiectasia: A rare neurodegenerative disorder characterized by progressive cerebellar ataxia and telangiectasias.

  • Atrial Septal Defect (ASD): A congenital heart defect characterized by a hole in the wall between the heart’s upper chambers.

  • Atresia: The absence or abnormal narrowing of a body opening or passage.

  • Autism Spectrum Disorder (ASD): A developmental disorder affecting communication and behavior.

  • Autoimmune Hepatitis: A chronic disease where the body’s immune system attacks liver cells.

  • Avascular Necrosis: Death of bone tissue due to a lack of blood supply.

  • Axenfeld-Rieger Syndrome: A genetic disorder affecting the eyes and other parts of the body.

B

  • Bacterial Meningitis: A serious bacterial infection causing inflammation of the protective membranes covering the brain and spinal cord.

  • Bardet-Biedl Syndrome: A genetic disorder affecting multiple systems, including vision and kidney function.

  • Barrett Esophagus: A condition where the tissue lining the esophagus changes, increasing the risk of esophageal cancer.

  • Basal Cell Nevus Syndrome: A genetic condition leading to the development of multiple basal cell carcinomas.

  • Batten Disease: A rare neurodegenerative disorder affecting children, leading to vision loss and seizures.

  • Beckwith-Wiedemann Syndrome: A growth disorder causing large body size and an increased risk of childhood cancer.

  • Beta Thalassemia: A blood disorder reducing the production of hemoglobin.

  • Biliary Atresia: A condition where the bile ducts are blocked or absent, leading to liver damage.

  • Bipolar Disorder: A mood disorder characterized by extreme mood swings.

  • Blount Disease: A growth disorder of the shin bone causing the lower leg to angle inward.

  • Bone Marrow Failure Syndromes: Conditions where the bone marrow does not produce sufficient blood cells.

  • Brachial Plexus Injury: Damage to the network of nerves controlling the arm and hand.

  • Bronchiolitis: An inflammation of the small airways in the lung, often caused by viral infections.

  • Bronchopulmonary Dysplasia (BPD): A chronic lung disease affecting premature infants.

  • Brucellosis: A bacterial infection transmitted from animals to humans.

  • Buerger Disease: A rare disease of the blood vessels causing inflammation and clotting.

  • Burkitt Lymphoma: A fast-growing form of non-Hodgkin lymphoma.

C

  • Cachéxia: A complex syndrome associated with underlying illness causing weight loss and muscle wasting.

  • Celiac Disease: An autoimmune disorder where ingestion of gluten damages the small intestine.

  • Central Auditory Processing Disorder (CAPD): A condition affecting the brain’s ability to process auditory information.

  • Central Hypoventilation Syndrome: A disorder affecting automatic control of breathing.

  • Cerebral Palsy (CP): A group of disorders affecting movement and muscle tone due to brain damage.

  • Cervical Dystonia: A neurological disorder causing abnormal head posture.

  • Chagas Disease: A tropical parasitic disease caused by Trypanosoma cruzi.

  • Charcot-Marie-Tooth Disease: A group of inherited disorders affecting peripheral nerves.

  • Chickenpox (Varicella): A highly contagious viral infection causing an itchy skin rash.

  • Chikungunya Virus: A mosquito-borne virus causing fever and joint pain.

  • Chlamydia Trachomatis Infection: A bacterial infection that can affect the eyes, respiratory tract, and genitals.

  • Cholestasis: A condition where bile cannot flow from the liver to the duodenum.

  • Chronic Granulomatous Disease (CGD): A genetic disorder affecting the immune system’s ability to fight certain infections.

  • Chronic Kidney Disease (CKD): A long-term condition where the kidneys do not function properly.

  • Chronic Myelogenous Leukemia (CML): A type of cancer that starts in blood-forming cells.

  • Cicatricial Pemphigoid: A rare autoimmune blistering disorder affecting mucous membranes.

  • Cleft Lip and Palate: Congenital conditions where there is an opening or gap in the upper lip and/or palate.

  • Clostridium Difficile Infection: A bacterial infection causing severe diarrhea.

  • Cochlear Implants: Electronic devices that provide a sense of sound to individuals with severe hearing loss.

  • Cogan Syndrome: A rare disorder characterized by inflammation of the eyes and inner ears.

  • Cohen Syndrome: A genetic disorder affecting multiple systems, including the eyes and nervous system.

  • Cold Agglutinin Disease: A type of autoimmune hemolytic anemia.

  • Congenital Adrenal Hyperplasia (CAH): A group of genetic disorders affecting adrenal gland function.

  • Congenital Diaphragmatic Hernia (CDH): A birth defect where there is a hole in the diaphragm allowing abdominal organs to move into the chest.

  • Congenital Heart Disease (CHD): Malformations of the heart present from birth.

  • Congenital Hypothyroidism: A condition present at birth where the thyroid gland does not produce enough thyroid hormone.

  • Congenital Rubella Syndrome: A set of birth defects caused by rubella virus infection during pregnancy.

  • Congenital Toxoplasmosis: A parasitic infection transmitted from mother to fetus during pregnancy.

  • Connective Tissue Disorders: Conditions affecting the tissues supporting organs and other parts of the body.

  • Constitutional Growth Delay: A temporary delay in growth and development in children.

  • Constipation: Infrequent or difficult bowel movements.

  • Contusion: A bruise caused by trauma to the skin and underlying tissues.

  • COPD (Chronic Obstructive Pulmonary Disease): A group of lung diseases that block airflow and make breathing difficult.

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