The severity of the disorder can vary within the same family, with symptoms ranging from so mild as to go unnoticed, to severe heart and/or liver disease that requires transplantation. It is uncommon, but<unk>  can be a life-threatening disease with a mortality rate of 10%. The majority of deaths from ALGS are typically due to heart complications or chronic liver failure. Liver Signs and symptoms arising from liver damage in<unk>  may include a yellowish tinge in the skin and the whites of the eyes (jaundice), itching (pruritus), pale stools (acholia), an enlarged liver (hepatomegaly), an enlarged spleen (splenomegaly) and deposits of cholesterol in the skin (xanthomas). A liver biopsy may indicate too few bile ducts (bile duct paucity) or, in some cases, the complete absence of bile ducts (biliary atresia). Bile duct paucity results in the reduced absorption of fat and fat-soluble vitamins (A, D, E and K), which may lead to rickets or a failure to thrive. Cirrhosis and eventual liver failure is fairly common among ALGS patients, and 15% of those with severe hepatic manifestations require a liver transplant. Hepatocellular cancer has been reported in a small number of cases, but it is extremely rare. Heart Tetralogy of Fallot is a common heart defect experienced in<unk>  patients. Common signs of<unk>  include congenital heart problems varying from heart murmurs to significant structural abnormalities, such as Tetralogy of Fallot, Pulmonary Stenosis, overriding aorta, ventricular septal defect, and right ventricular hypertrophy are common amongst<unk>  patients. Patients may also present with Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, and Coarctation of the aorta. The mortality rate of Tetralogy of Fallot when untreated ranges from 70% by age 10 to 95% by age 40. However, complete surgical repair can significantly improve both longevity and quality of life in patients with<unk> . Other Other presentations of<unk> 's syndrome include butterfly vertebrae, ophthalmology defects, and distinct facial structures. The butterfly vertebrae can be detected with an x-ray, but there typically are no symptoms from this abnormality. Other skeletal defects common in ALGS patients are spina bifida and the fusion of vertebrae. Most of the ophthalmological defects affect the anterior chamber of the eyeball, including Axenfeld's anomaly and Rieger anomaly, but retina pigment changes are also common. These anomalies can be beneficial in diagnosing<unk> . Many people with ALGS have similar facial features, including a broad, prominent forehead, deep-set eyes, and a small pointed chin. While these distinct facial features are often presented in ALGS patients, the features are presumably not due to<unk> , but they are characteristic of patients with intrahepatic cholestatic liver disease. So while these facial characteristics are extremely common in ALGS patients, it is because many patients experience extreme liver complications or liver failure, but it is not caused by the disease itself. The kidneys may also be affected because the mutations in JAG1 and NOTCH2 often lead to renal dysplasia, deformed proximal tubules, or lipidosis caused by the hindrance of lipid metabolism.
Alagille syndrome
DiGeorge syndrome
Treacher Collins syndrome
LIG4 syndrome
MEDNIK syndrome
GRACILE syndrome
Kabuki syndrome
Hajdu–Cheney syndrome