What is Alagille syndrome?
Alagille syndrome is a rare genetic disorder that primarily affects the liver, heart, eyes, kidneys and spine. It is caused by mutations in the JAG1 gene or NOTCH2 gene and leads to problems such as bile duct hypoplasia in the liver, heart defects and vision problems. Common symptoms include growth retardation and bone abnormalities. Treatment focuses on alleviating the symptoms, with a possible liver transplant in severe cases.
Aids that are frequently used for Alagille syndrome:
Aids and support for everyday life
The provision of aids for Alagille syndrome aims to support physical development and improve quality of life in the event of chronic complaints:
- Support for growth retardation: as children are often very small and petite, they often require longer adapted aids such as high chairs with a special booster seat or adjustable footrests to enable an ergonomic posture when eating and learning.
- Mobility with bone abnormalities: If bone malpositions or increased bone fragility are present, lightweight wheelchairs or buggies with special suspension can help to minimize shocks and ensure mobility.
- Skin care & itch relief: In cases of extreme itching, special sleepwear made of silk or silver thread (atopic dermatitis underwear) can help to cool the skin and prevent inflammation caused by scratching.
- Nutritional aids: As fat digestion is impaired, some children require a feeding tube (PEG). Mobile feeding pumps and suitable backpacks are important aids for kindergarten or school.
- Visual aids: If the eyes are involved, specialized children's glasses may be necessary to provide optimal visual support.
Learn more
You can find more helpful information about Alagille syndrome here:
www.orpha.net