Von Willebrand disease (VWD) is a bleeding disorder in which the blood does not clot as it should. Usually, people have VWD due to their genes, which may come from a male or female parent. Blood ...

Carpenter syndrome is a rare autosomal recessive disorder characterized by several developmental problems. It belongs to a group of disorders known as Acrocephalopolysyndactyly syndromes. A congenital ...

Researchers have conducted what they say is the largest and most diverse study to date on how recessive genetic changes contribute to developmental disorders. The team, headed by researchers at the ...

Blue diaper syndrome (BDS), also known as Drummond's Syndrome, is an extremely rare metabolic disorder, first described in 1964. It is a genetic disorder with an autosomal or x-linked recessive ...