Alagille syndrome is a rare genetic disease that affects infants and children, right from birth or at a very young age, primarily resulting in liver problems and heart defects. Designated after the reputed French physician and paediatric specialist, Daniel Alagille, this health anomaly can present in differing intensities, from merely discoloured stools, chest murmurs like in Marfan syndrome, to serious heart or liver failure, which require transplant surgery.

Also Read: Marfan Syndrome: Causes, Symptoms And Treatment

Thus, if the symptoms of Alagille syndrome are not reported to a healthcare provider at once, the health of the child can deteriorate rapidly and the illness can even assume life-threatening phases, resulting in fatal outcomes. As long as this inherited ailment is detected it its early stages in babies and kids, it can be effectively treated with timely professional medical intervention and a long life expectancy is assured.
Alagille Syndrome influences liver and heart

Certain additional symptoms also arise in patients with Alagille syndrome, such as butterfly vertebrae characterised by a maimed spine and vision abnormalities in the eyeball. Furthermore, facial features of the child also appear very pronounced and different, such as a wide forehead and a rather jagged, small chin. It is hence essential to understand the causes, symptoms, diagnosis and treatment of Alagille syndrome, to identify the signs immediately and assure prompt medical care for the affected child.

Causes Of Alagille Syndrome

The cause of Alagille syndrome is usually a mutation in the JAG1 and/or NOTCH2 genes, that is passed on from one of the parents to the child. Nevertheless, in some scenarios, the mutation occurs abruptly in the newborn, with no sign of the same genetic aberration in either of the parents.

This eventually amplifies in the system of the newborn and upon developing, leads to loss of function in the hepatic cells and cardiac tissues, thereby hampering the smooth operations of the liver and the heart.


The characteristic symptoms of Alagille syndrome in babies and children consist of the following:

Yellow discolouration in the skin and eyes, like in the case of jaundice
Also Read: Newborn Jaundice: Causes, Symptoms And Treatment

Itching and discomfort in the skin

Abnormalities in the cardiac blood vessels

Irregular heartbeats

Asymmetrical growth of spinal cord structures, known as butterfly vertebrae

A decline in kidney functions

Enlarged spleen

White rings that form on the eyeballs, known as posterior embryotoxon

Diagnosis And Treatment

The doctor thoroughly analyses any external indication sin the newborn or child, besides recording the complete medical history of them as well as their parents. Since Alagille syndrome mostly hinders the functions of the liver and heart, many diagnostic assays are conducted for these two central organs of the body.

These tests include a liver biopsy, heart exams, blood profiling, as well as genetic testing to determine the DNA aberrations prompting Alagille syndrome in the child.

Furthermore, eye check-ups, X-rays of the spinal cord and assessments of kidney operations are also carried out, to look for any additional symptoms that are generally known to accompany the heart and liver defects witnessed in Alagille syndrome.

Once the instance of Alagille syndrome is confirmed in the patient, pertinent treatment procedures are initiated. These consist of prescription medications to improve the excretion of bile and other fluid wastes our of the liver, to restore normal hepatic functions. Pills are also prescribed to maintain healthy heart operations, while topical creams are recommended to soothe itching on skin and vitamin supplements are advised to be taken, to improve overall health.

Only in very grave cases of complete heart failure or liver damage, transplant surgery is performed, to replace the impaired organs with a healthy one from a donor and help the patient regain optimal health.