b.

Background of syndrome (pictures or bullets only, total number in a population)-

maricor
according to National Organization for rare disorder Alagille syndrome (ALGS) is a rare genetic
illness that affects the liver, heart, skeleton, eyes, and kidneys, among other organ systems.
Alagille syndrome symptoms and severity can differ widely from person to person, even within
the same family. Some people have minor cases of the illness, while others have more severe
cases. Blockage of bile flow from the liver (cholestasis), yellowing of the skin and mucous
membranes (jaundice), poor weight gain and growth, and intense itching are all common
symptoms that appear in the first three months of life (pruritis). Heart murmurs, congenital heart
problems, vertebral (back bone) variations, and thickening of the ring that normally lines the
cornea of the eye are all additional signs. (posterior embryotoxon) and unique facial
characteristics. Males and females are equally affected by Alagille syndrome. The prevalence of
Alagille syndrome in the general population is estimated to be 1 in 30,000-45,000 people.
Because some cases of Alagille syndrome go untreated or are misdiagnosed, determining the true
prevalence of Alagille syndrome in the general population is challenging.

 Alagille syndrome is an autosomal dominant disorder with variable multisystem organ

involvement
 Classic features of Alagille syndrome include cholestatic liver disease, congenital cardiac
disease (peripheral pulmonary stenosis), vasculopathy, renal pathology, skeletal features
(butterfly vertebrae), ophthalmological involvement (posterior embryotoxon) and
characteristic facies
 Alagille syndrome can present at any age, even in adulthood, with predominantly renal
and little or no hepatic involvement
 Renal findings in Alagille syndrome include renal dysplasia (with or without cysts), renal
tubular acidosis, vesicoureteral reflux, proteinuria and hypertension (with midaortic
syndrome and/or visceral artery stenosis)
 Renal pathology and vasculopathy have been recognized to be recurrent features of
Alagille syndrome, which should be included in diagnostic criteria
 Renal phenotypes in Alagille syndrome can be explained by the presence of mutations in
the Notch signalling pathway genes, NOTCH2 or JAG1, during kidney development

f. Actual cases (show pictures - you could add their personal stories)-maricor
From 10 days after birth, a 10-year-old child from the Indian subcontinent had recurrent
jaundice, occasional itching, and the passing of clay-colored stool. His parents detected a 7-
year-old bulge on the upper region of his belly that was progressively developing. He also had a
6-year history of sneezing, sore throat, rhinorrhea, and periodic fever, as well as an intermittent
productive cough. Productive cough episodes typically occurred every 5–6 months (mainly
during the winter and rainy seasons), lasted 3–5 days, and improved after treatment with
expectorant and anti-allergic cold medication. He had been experiencing sporadic bleeding
from his nose for the past four years, as well as the recurrence of post-traumatic violaceous-red
patches at the site of trauma. Following minor injuries, he had fractures in his upper limbs. He
has experienced night vision problems for the past three years.

This syndromic variant of paucity of bile duct dysfunction has only been documented a few
times in Indian literature. This is likely the first case report of AGS appearing such an early
onset of chronic liver disease, therefore it's important to share. Because these patients typically
have multisystem involvement, they may be evaluated by multiple clinical subspecialties. As a
result, all clinicians should be aware of this serious and rare disease, and they should take
appropriate measures to ensure timely referral to appropriate higher specialties, so that a poor
outcome can be avoided through early aggressive management.

Alagille syndrome (ALGS) is a rare hereditary sickness that affects the liver, heart, skeleton,
eyes, and kidneys, among other organ systems, according to the National Organization for Rare
Disorders. Symptoms and severity of Alagille syndrome vary greatly from person to person,
even within the same family. Some people experience mild symptoms, while others have more
severe symptoms. Cholestasis (abnormal bile flow from the liver), jaundice (yellowing of the
skin and mucous membranes), poor weight gain and growth, and severe itching are all signs
that arise in the first three months of life (pruritis). Additional indications include heart
murmurs, congenital heart issues, changes in the vertebral (back bone), and thickening of the
ring that ordinarily lines the cornea of the eye. (embryotoxon posterior) and distinctive facial
features Alagille syndrome affects both men and women equally. The frequency of Alagille
syndrome is estimated to be 1 in 30,000-45,000 people in the general population. It's difficult to
determine the true prevalence of Alagille syndrome in the general community because some
instances go untreated or are misdiagnosed.

From 10 days after birth, a 10-year-old child from the Indian subcontinent had recurrent
jaundice, occasional itching, and the passing of clay-colored stool. His parents detected a 7-
year-old bulge on the upper region of his belly that was progressively developing. He also had a
6-year history of sneezing, sore throat, rhinorrhea, and periodic fever, as well as an intermittent
productive cough. Productive cough episodes typically occurred every 5–6 months (mainly
during the winter and rainy seasons), lasted 3–5 days, and improved after treatment with
expectorant and anti-allergic cold medication. He had been experiencing sporadic bleeding
from his nose for the past four years, as well as the recurrence of post-traumatic violaceous-red
patches at the site of trauma. Following minor injuries, he had fractures in his upper limbs. He
has experienced night vision problems for the past three years. This syndromic variant of
paucity of bile duct dysfunction has only been documented a few times in Indian literature. This
is likely the first case report of AGS