Global DiseaseIntelligence Platform

22q11.2 Deletion Syndrome (DiGeorge Syndrome)

The most common microdeletion syndrome caused by deletion of 22q11.2. Characterized by congenital heart defects, thymic hypoplasia, immunodeficiency, hypocalcemia, and characteristic facial features. Variable expressivity.

Abetalipoproteinemia

A rare autosomal recessive disorder causing inability to synthesize apolipoprotein B, resulting in fat malabsorption, fat-soluble vitamin deficiency, and neurological complications. Presents with acanthocytosis and severe deficiency of fat-soluble vitamins.

Achalasia

A rare esophageal motility disorder where the lower esophageal sphincter fails to relax and the esophagus lacks normal peristalsis. Causes difficulty swallowing and regurgitation. Degeneration of nerve cells in esophagus.

Achilles Tendinitis

Inflammation of the Achilles tendon, the large tendon connecting the calf muscles to the heel bone. Common in runners and athletes who have suddenly increased training intensity. Causes pain and stiffness along the back of the leg near the heel.

Acromegaly

A hormonal disorder caused by excessive growth hormone production from a pituitary adenoma, usually after puberty. Causes gradual enlargement of bones and tissues, particularly hands, feet, and face.

Actinic Keratosis (Solar Keratosis)

Rough, scaly patches on the skin caused by damage from the sun's ultraviolet (UV) rays. Considered precancerous lesions that can develop into squamous cell carcinoma. Most common on sun-exposed areas.

Acute Bronchitis

Inflammation of the bronchial tubes in the lungs, typically caused by viral infections. Characterized by cough, mucus production, and chest discomfort. Usually self-limiting but can be bothersome. One of the most common respiratory conditions.

Acute Lymphoblastic Leukemia (ALL)

The most common childhood cancer, characterized by uncontrolled proliferation of immature lymphoid cells (lymphoblasts) in bone marrow and blood. Peak incidence at 2-5 years. Multiple subtypes with varying prognosis.

Acute Otitis Media

Middle ear infection, most common in children due to eustachian tube anatomy. Caused by bacteria or viruses. Characterized by ear pain, fever, and possible hearing loss. Major reason for pediatric antibiotic use.

Acute Pancreatitis

Sudden inflammation of the pancreas, usually mild and self-limiting but can be life-threatening. Most commonly caused by gallstones or alcohol. Presents with severe abdominal pain. Can lead to pancreatic necrosis, organ failure, or pseudocysts.