A
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Achondroplasia: A genetic disorder resulting in dwarfism due to abnormal cartilage development.
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Acetaminophen Toxicity: Overdose of acetaminophen leading to liver damage.
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Acid-Base Disorders: Disturbances in the body’s pH balance, including acidosis and alkalosis.
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Acrodermatitis Enteropathica: A rare zinc deficiency disorder causing dermatitis and alopecia.
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Adrenoleukodystrophy (ALD): A genetic disorder affecting the nervous system and adrenal glands.
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Alagille Syndrome: A genetic disorder affecting the liver, heart, and other systems.
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Allergic Rhinitis: An allergic reaction causing sneezing, itching, and nasal congestion.
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Alpha-1 Antitrypsin Deficiency: A genetic disorder that can lead to lung and liver disease.
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Alport Syndrome: A genetic condition characterized by kidney disease, hearing loss, and eye abnormalities.
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Amniotic Band Syndrome: A condition where fibrous bands in the uterus restrict fetal development.
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Anencephaly: A severe neural tube defect resulting in the absence of major portions of the brain and skull.
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Ankylosing Spondylitis: A type of arthritis affecting the spine and large joints.
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Anthrax: A bacterial infection that can be transmitted from animals to humans.
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Apert Syndrome: A genetic disorder characterized by the premature fusion of certain skull bones.
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Apraxia of Speech: A motor speech disorder affecting the planning of speech movements.
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Arterial Tortuosity Syndrome: A rare genetic disorder affecting the connective tissue.
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Asperger Syndrome: A developmental disorder affecting social interaction and nonverbal communication.
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Astigmatism: A refractive error causing blurred vision due to an irregularly shaped cornea.
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Ataxia-Telangiectasia: A rare neurodegenerative disorder characterized by progressive cerebellar ataxia and telangiectasias.
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Atrial Septal Defect (ASD): A congenital heart defect characterized by a hole in the wall between the heart’s upper chambers.
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Atresia: The absence or abnormal narrowing of a body opening or passage.
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Autism Spectrum Disorder (ASD): A developmental disorder affecting communication and behavior.
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Autoimmune Hepatitis: A chronic disease where the body’s immune system attacks liver cells.
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Avascular Necrosis: Death of bone tissue due to a lack of blood supply.
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Axenfeld-Rieger Syndrome: A genetic disorder affecting the eyes and other parts of the body.
B
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Bacterial Meningitis: A serious bacterial infection causing inflammation of the protective membranes covering the brain and spinal cord.
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Bardet-Biedl Syndrome: A genetic disorder affecting multiple systems, including vision and kidney function.
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Barrett Esophagus: A condition where the tissue lining the esophagus changes, increasing the risk of esophageal cancer.
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Basal Cell Nevus Syndrome: A genetic condition leading to the development of multiple basal cell carcinomas.
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Batten Disease: A rare neurodegenerative disorder affecting children, leading to vision loss and seizures.
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Beckwith-Wiedemann Syndrome: A growth disorder causing large body size and an increased risk of childhood cancer.
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Beta Thalassemia: A blood disorder reducing the production of hemoglobin.
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Biliary Atresia: A condition where the bile ducts are blocked or absent, leading to liver damage.
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Bipolar Disorder: A mood disorder characterized by extreme mood swings.
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Blount Disease: A growth disorder of the shin bone causing the lower leg to angle inward.
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Bone Marrow Failure Syndromes: Conditions where the bone marrow does not produce sufficient blood cells.
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Brachial Plexus Injury: Damage to the network of nerves controlling the arm and hand.
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Bronchiolitis: An inflammation of the small airways in the lung, often caused by viral infections.
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Bronchopulmonary Dysplasia (BPD): A chronic lung disease affecting premature infants.
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Brucellosis: A bacterial infection transmitted from animals to humans.
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Buerger Disease: A rare disease of the blood vessels causing inflammation and clotting.
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Burkitt Lymphoma: A fast-growing form of non-Hodgkin lymphoma.
C
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Cachéxia: A complex syndrome associated with underlying illness causing weight loss and muscle wasting.
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Celiac Disease: An autoimmune disorder where ingestion of gluten damages the small intestine.
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Central Auditory Processing Disorder (CAPD): A condition affecting the brain’s ability to process auditory information.
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Central Hypoventilation Syndrome: A disorder affecting automatic control of breathing.
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Cerebral Palsy (CP): A group of disorders affecting movement and muscle tone due to brain damage.
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Cervical Dystonia: A neurological disorder causing abnormal head posture.
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Chagas Disease: A tropical parasitic disease caused by Trypanosoma cruzi.
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Charcot-Marie-Tooth Disease: A group of inherited disorders affecting peripheral nerves.
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Chickenpox (Varicella): A highly contagious viral infection causing an itchy skin rash.
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Chikungunya Virus: A mosquito-borne virus causing fever and joint pain.
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Chlamydia Trachomatis Infection: A bacterial infection that can affect the eyes, respiratory tract, and genitals.
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Cholestasis: A condition where bile cannot flow from the liver to the duodenum.
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Chronic Granulomatous Disease (CGD): A genetic disorder affecting the immune system’s ability to fight certain infections.
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Chronic Kidney Disease (CKD): A long-term condition where the kidneys do not function properly.
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Chronic Myelogenous Leukemia (CML): A type of cancer that starts in blood-forming cells.
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Cicatricial Pemphigoid: A rare autoimmune blistering disorder affecting mucous membranes.
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Cleft Lip and Palate: Congenital conditions where there is an opening or gap in the upper lip and/or palate.
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Clostridium Difficile Infection: A bacterial infection causing severe diarrhea.
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Cochlear Implants: Electronic devices that provide a sense of sound to individuals with severe hearing loss.
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Cogan Syndrome: A rare disorder characterized by inflammation of the eyes and inner ears.
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Cohen Syndrome: A genetic disorder affecting multiple systems, including the eyes and nervous system.
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Cold Agglutinin Disease: A type of autoimmune hemolytic anemia.
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Congenital Adrenal Hyperplasia (CAH): A group of genetic disorders affecting adrenal gland function.
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Congenital Diaphragmatic Hernia (CDH): A birth defect where there is a hole in the diaphragm allowing abdominal organs to move into the chest.
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Congenital Heart Disease (CHD): Malformations of the heart present from birth.
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Congenital Hypothyroidism: A condition present at birth where the thyroid gland does not produce enough thyroid hormone.
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Congenital Rubella Syndrome: A set of birth defects caused by rubella virus infection during pregnancy.
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Congenital Toxoplasmosis: A parasitic infection transmitted from mother to fetus during pregnancy.
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Connective Tissue Disorders: Conditions affecting the tissues supporting organs and other parts of the body.
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Constitutional Growth Delay: A temporary delay in growth and development in children.
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Constipation: Infrequent or difficult bowel movements.
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Contusion: A bruise caused by trauma to the skin and underlying tissues.
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COPD (Chronic Obstructive Pulmonary Disease): A group of lung diseases that block airflow and make breathing difficult.