Linkage analysis excluded a mutation in JAG1. Conclusions: We have identified a kindred with an Alagille-like syndrome with an autosomal recessive form of inheritance not caused by a mutation in JAG1.

Acute flaccid paralysis in children is a medical emergency that can progress to respiratory failure within hours or days, ...

Some health problems are passed down through families. There are different ways this can happen. To have a child born with what’s called an “autosomal recessive disease” like sickle cell ...

Featured What Causes Kartagener Syndrome? Kartagener syndrome and PCD are autosomal recessive genetic conditions. Recessive disorders happen when you inherit a mutated gene from both parents.

Three autosomal dominant inherited forms of dystrophic EB are classically described, namely the Cockayne-Touraine type, the Pasini type, and Bart's syndrome. [3] ...

Autosomal recessive cutis laxa syndrome type II appears to be a spectrum of clinical entities with variable severity of cutis laxa, abnormal growth and developmental delay and associated skeletal ...

Autosomes, or autosomal DNA, make up 22 pairs of chromosomes in your body. Small variations in these genes determine your genetic makeup and whether you inherit certain traits and conditions.

Auggie Pullman's facial deformity in the movie 'Wonder' is called Treacher Collins syndrome. Here are the facts about the causes and how it's treated.

Autosomal dominant polycystic kidney disease is an inherited systemic disorder with major renal manifestations and, in some cases, abnormalities in the liver, the pancreas, the brain, the arterial ...

For individuals with autosomal and X-linked recessive deficiencies of IRAK-4 and MyD88, the risk of mechanical ventilation due to critical hypoxemic pneumonia is also greater than that in age ...

Without a family history of an autosomal recessive condition, Maria and Max have an 8% chance of having a child diagnosed with a problem after birth.

Epidermodysplasia verruciformis, often called tree man syndrome, is an inherited condition that causes skin growths linked to HPV infection. Learn more here.