HomeHealth articlesalagille syndromeWhat Is Alagille Syndrome?

Alagille Syndrome - Causes, Clinical Features, Diagnosis, and Treatment

Verified dataVerified data
Alagille Syndrome - Causes, Clinical Features, Diagnosis, and Treatment

4 min read


Alagille syndrome is a complex disorder that affects various parts of the body. To know more, read the article below.

Written by

Dr. Gayathri P

Medically reviewed by

Dr. Kaushal Bhavsar

Published At July 12, 2022
Reviewed AtDecember 1, 2023


Alagille syndrome is a rare disorder that mainly affects the liver. It is found to occur in 1 in every 70,000 newborns. The symptoms usually develop during the first few months after birth. The intensity of the symptoms varies from one person to another.

What Is Alagille Syndrome?

Alagille syndrome is a complex genetic disorder that is inherited within families. It affects the body systems like the liver, heart, eyes, and kidneys. In normal individuals, the liver produces a fluid (bile) carried by bile ducts to other parts (gallbladder, intestine) to help digestion. In patients with Alagille syndrome, the bile ducts are defective and less in number, so the bile gets built up within, causing liver damage.

What Causes Alagille Syndrome?

Changes (deletions) that occur in the genes during the early development of infants are found to cause Alagille syndrome. Most of the patients are affected by alterations in the JAG1 gene and rarely in the NOTCH2 gene.

What Are the Clinical Features of Alagille Syndrome?

  • Liver Damage: As it becomes difficult for the bile ducts to remove bile from the liver, stocking of bile leads to scarring liver tissue and further damage. It also leads to yellowish discoloration of the skin (jaundice) and eyes, dark-colored urine, pale stools, and itchy skin in infancy.

  • Malnutrition: Bile juices produced by the liver are responsible for absorbing and digesting fat and vitamins like A, D, E, and K. Since the bile is not available in adequate amounts in the intestines, poor absorption of vitamins occurs, leading to defective blood clotting, vision problems, rickets, and other growth disturbances (delay in development).

  • Heart Abnormalities: Abnormal sound (murmur) heard with heartbeats and narrowed blood vessels of the lungs (stenosis) are the characteristic features of Alagille syndrome. In a few children, defects in the valves and septum of the heart occur. The most common among them is the tetralogy of Fallot, which causes bluish discoloration of the skin (cyanosis).

  • Eye Defects: Various abnormalities of the eyes are observed during a clinical eye examination. These include the thickening of lines on the eye's surface (cornea), referred to as posterior embryotoxon (PE). The inner layers (retina) of the eye responsible for sending vision images to the brain have degenerated. Vision is not lost, but the clarity of vision is reduced.

  • Facial Deformities like broad forehead, pointed chin, widely spaced, and malformed eyes (hypertelorism) are seen.

  • Bone Defects: Specific spine bones are irregularly shaped, leading to a butterfly-shaped appearance that is usually visualized in the radiographic examination. In a few patients, bone growth is disturbed, and the weakening of bones also occurs.

  • Kidney Abnormalities: The functioning of kidneys, like filtration of blood, are impaired, and rarely the presence of cyst and abnormally small kidneys are also observed.

  • Skin Nodules are whitish and caused by cholesterol deposits in the skin (xanthomas).

  • Other abnormalities like pancreatic insufficiency lead to decreased production of enzymes which eventually causes malnourishment.

  • In specific individuals, Moyamoya syndrome causes narrowing and blockage of the carotid artery that supplies blood to the brain, which later causes serious problems.

How to Diagnose Alagille Syndrome?

The various tools used in diagnosis are:

  • Liver Biopsy: The defective liver tissue is surgically removed and sent for microscopic examination. It will identify tissue scarring and abnormalities of bile ducts in the liver.

  • Blood Tests are done to identify the deficiencies of vitamins and to detect the functioning of the liver by checking the level of a specific protein (albumin) in the blood.

  • Radiographs are taken to visualize any bony defects and view the characteristic butterfly-shaped spinal column.

  • Ultrasound of the abdomen is done to detect pancreas, liver, and spleen abnormalities.

  • An Eye Examination detects classic features like posterior embryotoxon and other vision problems.

  • Electrocardiograms and angiograms detect abnormal heart sounds and blocked blood vessels.

  • Genetic Testing is done to detect the changes in the JAG1 gene that is responsible for causing Alagille syndrome.

What Is the Differential Diagnosis?

The diseases that are similar to Alagille syndrome are as follows:

  • Extrahepatic biliary atresia is an inflammatory disorder of the liver that destroys the bile ducts, leading to bile collection in the liver. The characteristic features include jaundice, liver scarring, itchy skin, pale stools, etc.

  • DiGeorge syndrome is a genetic disorder with clinical features like eye and heart valve defects, butterfly spine, etc. However, liver abnormalities do not occur in this disease.

  • Neonatal hepatitis affects the liver of newborns and has symptoms like pale stools, dark-colored urine, and yellowish discoloration of the skin. But the bile ducts are not damaged in infants with neonatal hepatitis.

How to Treat Alagille Syndrome?

Pharmacological Treatment:

  • Antihistamines like Rifampin and Naltrexone are suggested to get relief from itching.

  • Drugs like Cholestyramine reduce the increased cholesterol levels that cause white nodules on the skin.

  • Ursodeoxycholic acid improves the flow of bile and decreases the production of cholesterol by the liver.

  • Supplements of vitamin A, D, E, and K are given to children to support growth and development. Formulas containing triglyceride, a fat that is easily absorbed, are provided. Extra nutrients, if necessary, are supplied through thin tubes from the nose directly to the abdomen. Or the doctor may also insert a gastrostomy tube through a small opening in the stomach.

Surgical Treatment:

  • When the symptoms are severe and are not managed with medications, the doctor will plan for the following surgeries to improve the quality of life.

  • Liver Transplant: If the liver is severely damaged and its function is wholly worsened, then a decision is made to transplant the liver to increase its functioning.

  • Partial biliary diversion is a surgical procedure done to prevent the circulation of bile within the liver and divert it to the intestines. It is a very effective surgery done in children to reduce the symptoms like itching and fatty deposits in the skin.

  • The doctors may plan for heart surgery to treat any complications due to heart valve or blood vessel defects.


Patients with Alagille syndrome can lead a good life if the symptoms are corrected and nutritional support is provided early. Well, coordination of the patient to the doctor's advice is essential in treating such diseases.

Frequently Asked Questions


What Is the Life Expectancy for People With Alagille Syndrome?

Alagille syndrome patients have a varied life expectancy. The exact number of Alagille syndrome-affected people is unknown. Many individuals with Alagille syndrome have few symptoms and can live regular lives with a normal life expectancy.


What Are the Causes of Alagille Syndrome?

ALGS (Alagille syndrome) is a rare genetic condition. Alagille syndrome is caused by gene mutations. The majority of Alagille syndrome patients have alterations in one copy of the JAG1 gene. A small percentage of patients with Alagille syndrome (nearly two percent) have NOTCH2 gene mutations.


What Are the Other Names for Alagille Syndrome?

Alagille syndrome is a multisystem disorder with several clinical symptoms. It is also known as Watson-Miller syndrome, Alagille-Watson syndrome or syndromic bile duct paucity.


Is It Possible to Cure Alagille Syndrome?

Alagille syndrome has no specific treatment. The management of Algille syndrome focuses on preventing and monitoring potential complications. This includes measures for boosting bile flow from the liver, maintaining regular growth and development, and decreasing the itching sensation.


What Are the Diagnostic Tests Used for Alagille Syndrome?

Various diagnostic tools used for Alagille syndrome are blood tests, liver biopsy, ultrasound of the abdomen, radiographs, and echocardiograms. Molecular genetic testing confirms the presence of a JAG1 or NOTCH2 gene mutation, confirming the diagnosis of Alagille syndrome.


What Is the Physical Appearance of a Newborn With Alagille Syndrome?

During the first few months, newborns with Alagille syndrome may have a yellowish tinge to the eyes and skin (jaundice) and poor growth. Physical characteristics such as prominent ears, saddle-like nose, large forehead, deep-set eyes, a tiny pointed chin, and small digits are also seen in affected babies.


What Are the Eye Symptoms of Alagille Syndrome?

Liver damage associated with Alagille syndrome may result in a yellowish tinge in the eyes. Other eye symptoms associated with Alagille syndrome are pigmentary retinopathy, angulated retinal vessels, and a posterior embryotoxon (thickening of the corneal ring).


How Long Do Children With Alagille Syndrome Live?

Many individuals with Alagille syndrome usually have mild symptoms and lead regular lives with normal life expectancies. Early diagnosis and treatment can help Alagille syndrome patients to live longer. Three out of every four people diagnosed with Alagille syndrome in childhood survive to the age of 20.


Which Vitamins Are Deficient in Alagille Syndrome?

In individuals with Alagille syndrome, the body cannot absorb lipids, and fat-soluble vitamins like vitamine E, A, D, and K. Thus the affected kids may have growth issues, rickets, poor coordination, developmental delays, and issues with blood coagulation.
Dr. Kaushal Bhavsar
Dr. Kaushal Bhavsar

Pulmonology (Asthma Doctors)


alagille syndrome
Community Banner Mobile
By subscribing, I agree to iCliniq's Terms & Privacy Policy.

Source Article ArrowMost popular articles

Do you have a question on

alagille syndrome

Ask a doctor online

*guaranteed answer within 4 hours

Disclaimer: No content published on this website is intended to be a substitute for professional medical diagnosis, advice or treatment by a trained physician. Seek advice from your physician or other qualified healthcare providers with questions you may have regarding your symptoms and medical condition for a complete medical diagnosis. Do not delay or disregard seeking professional medical advice because of something you have read on this website. Read our Editorial Process to know how we create content for health articles and queries.

This website uses cookies to ensure you get the best experience on our website. iCliniq privacy policy