Symptoms of the illness are jaundice (yellowing of skin and eyes), pale, loose stools and poor growth within the first three months of life. Later there is persistent jaundice, itching, fatty deposits in the skin, and stunted growth and development during early childhood.
Frequently, the disease stabilizes between ages 4 and 10 with an improvement in symptoms.
Other features that help establish the diagnosis include abnormalities in the cardiovascular system, the spinal column, the eye, and the kidneys. Narrowing of the blood vessels connecting the heart to the lungs (pulmonary artery) leads to extra heart sounds but rarely problems in heart function.
The shape of the bones of the spinal column may look like the wings of a butterfly on x-ray but almost never cause any problems with function of the nerves in the spinal cord.
Many physicians believe that there is a specific facial appearance shared by many of the children with Alagille syndrome. The features include a prominent, broad forehead, deep-set, widely spaced eyes, a long, straight nose and a small pointed chin.
More than 90 percent of children with Alagille syndrome have an unusual abnormality of the eyes. An extra, circular line on the surface of the eye requires specialized eye examination to detect and does not lead to any disturbances in vision. Patients may also develop kidney problems (nephropathy).
Problems with fat digestion and absorption may lead to deficiency of fat-soluble vitamins - A, D, E and K.
Vitamin A deficiency causes night blindness and red eyes. Vitamin D deficiency causes softening and fractures of the bones and teeth (rickets). Vitamin E deficiency causes a disabling disease of the nervous system and muscles, and vitamin K deficiency causes bleeding problems.
(Back to Top)