Purpose: Alagille syndrome is an autosomal dominant condition characterized by a paucity of interlobular bile ducts and chronic cholestasis, cardiac disease, skeletal abnormalities, ocular ...

Common autosomal recessive disorders include: Sickle cell disease: About 1 in 12 African-American people are carriers of this disease. One in 500 African-American babies is born with it.

Bart's syndrome is clinically characterized by congenital localized absence of skin, ... widespread skin fragility with congenital abnormalities and autosomal recessive inheritance.

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.

The clinical spectrum of the autosomal recessive cutis laxa syndromes is highly heterogeneous with respect to organ involvement and severity. One of the major diagnostic criteria is to detect ...