Congenital diseases are those that involve defects present before a child is born. These diseases can be genetically inherited, or the result of exposure to toxins or infection while still in the womb. A number of bone calcification diseases are known to be the result of hereditary factors.
Osteogenesis Imperfecta
A genetic disorder, osteogenesis imperfecta involves a defect in a type 1 collagen-producing gene. This most often results from the passing of the defective gene from a parent to the child, but in some cases, a new genetic mutation will cause the defect in a child whose parent does not have osteogenesis imperfecta.
Because type 1 collagen is essential in building bone, the defective gene causes the affected individual's bones to be weak and easily fractured. Persons with osteogenesis imperfecta are typically short in height, and the whites of their eyes have a blue tint. Loose joints, hearing loss, bowed limbs and scoliosis are sometimes symptoms of osteogenesis imperfecta, according to Medline Plus.
Marfan Syndrome
Marfan syndrome occurs when a gene that controls the formation of fibrillin-1 is defective. Fibrillin-1 is a protein that is integral to the structure of connective tissues, which include the bones.
The symptoms of Marfan syndrome may be present in infants, or may not manifest until later in life. Marfan syndrome causes an overgrowth in the bones of the arms and legs, elongating them, and its effects on the skeletal system are typically characterized by a tall thin body, spinal curvatures, sunken or protruding chest, long fingers and crowded teeth, according to the National Marfan Foundation.
Osteopetrosis
The rare, genetically inherited bone disease known as osteopetrosis can take one of three different forms, each with different clinical features. The common trait they all share is their ability to alter the rate at which bone tissue is broken down and removed, a process called bone resorption that is necessary to control the amount of bone tissue present in the body.
Patients with the form of this disease called osteopetrosis tarda may show no symptoms at all, while those with osteopetrosis congenita are born with severe symptoms, such as failure to thrive and growth retardation. Osteopetrosis congenita patients typically do not survive past their second birthday. Marble bone disease is a third form of osteopetrosis. It has a lower morbidity rate than osteopetrosis congenita, though it causes short stature, intracranial calcifications, hearing loss and psychomotor retardation, according to the America Academy of Family Physicians.
