Congenital Cystic Disease of the Liver
Congenital cystic disease of the liver is an umbrella term for birth-related (genetic or developmental) problems where tiny tubes in the developing liver (the bile ducts) do not form in the normal ...
Gastrointestinal, Pelvic & Liver Disease, (A – Z)
Autosomal Dominant Polycystic Liver Disease (ADPLD)
Autosomal dominant polycystic liver disease (ADPLD) is a genetic condition where many fluid-filled cysts grow in the liver. Over time, cysts can become numerous and large. The healthy liver tissue ...
Autoimmune Pancreatitis (AIP)
Autoimmune pancreatitis (AIP) is a special kind of chronic inflammation of the pancreas that happens when the immune system mistakenly attacks the pancreas. It often causes painless yellowing of the ...
Autoimmune Hepatitis
Autoimmune hepatitis is a long-lasting liver disease where the body’s immune system wrongly attacks liver cells. This attack causes inflammation, raises liver enzymes in blood tests, and—without ...
Autoimmune Enteropathy and Endocrinopathy – Susceptibility to Chronic Infections Syndrome
Autoimmune enteropathy and endocrinopathy – susceptibility to chronic infections syndrome is an extremely rare, inherited immune-system disorder. It happens most often because of a change (mutation) ...
Severe Immune-Mediated Enteropathy
Severe immune-mediated enteropathy means the small intestine is badly inflamed or injured because the immune system is attacking or mis-controlling the lining of the gut. “Severe” means the damage is ...
Urethral Atresia
Urethral atresia means the urethra (the tube that lets urine exit the bladder) did not form a usable opening during fetal development. Urine cannot leave the fetal bladder, so pressure backs up to ...
Atresia of the Urethra
Atresia of the urethra means the urethra—the tube that should carry urine from the bladder to the outside—did not form an open channel. It is blocked completely. Because urine cannot leave the ...
Jejunoileal Atresia
Jejunoileal atresia is a birth defect where a segment of the small intestine (jejunum and/or ileum) fails to form a normal, open tube, causing a complete blockage. Babies typically present in the ...
Jejunal Atresia
Jejunal atresia is a birth problem where a section of the middle small intestine (the jejunum) is blocked or missing. Because the tube is closed, milk cannot pass through, so newborns quickly develop ...
Congenital Small Intestine Atresia
Congenital small intestine atresia means a baby is born with a blocked or missing segment of the small bowel (jejunum or ileum). Food and fluid cannot pass through. This causes swollen bowel loops ...
Atresia of the Small Intestine
Atresia of the small intestine means a portion of a baby’s small bowel did not form a normal, open tube before birth. Instead of a smooth passage, there is a complete block (atresia) or, less often, ...
Annular Pancreas
Annular pancreas is a rare birth difference where a ring (or partial ring) of pancreatic tissue grows around the second part of the duodenum (the first part of the small bowel). That ring can squeeze ...
Anisakiasis
Anisakiasis is a disease caused by tiny roundworms (nematodes) that live in some raw or undercooked marine fish and squid. When a person eats fish or squid that contains a live larva, the worm can ...
Emphysema Cirrhosis Due to Alpha-1 Antitrypsin (AAT) Deficiency
Emphysema–cirrhosis due to AAT deficiency is a genetic condition where a person is born with too little working alpha-1 antitrypsin (AAT) protein. AAT is made mainly in the liver and travels in the ...
Syndromic Bile Duct Paucity
Syndromic bile duct paucity means there are fewer small bile ducts inside the liver than normal, and this shortage occurs as part of a broader syndrome that also affects other organs (like the heart, ...
Arteriohepatic Dysplasia
Arteriohepatic dysplasia—better known as Alagille syndrome (ALGS)—is a rare genetic condition that affects many body systems, mainly the liver and heart. In the liver, there are fewer small bile ...
Accelerated Interstitial Pneumonia (AIP)
Accelerated interstitial pneumonia (AIP) is a fast-moving form of interstitial lung disease in which the tiny air sacs (alveoli) and the tissue between them (interstitium) become acutely inflamed and ...
Acute Interstitial Pneumonia (Hamman–Rich Syndrome)
Acute interstitial pneumonia (AIP) is a sudden, severe lung disease that causes rapid inflammation and scarring in both lungs. Doctors also call it Hamman–Rich syndrome. It usually affects adults who ...
Acute Infantile Liver Failure Due to Synthesis Defects
Acute infantile liver failure due to synthesis defects is a sudden, life-threatening breakdown of liver function in a baby (newborn to about 12 months old) caused by problems in the body’s “making” ...
