Congential Disorders of the Human Skeletal System

The early development of the human skeletal system begins in the third week of gestation, and the skeletal system continues to develop until late puberty. About 400 types of congenital disorders--i.e., disorders that are present since birth but may be detected at any time in life--of the skeletal system are known, and they eventually lead to a shortening of stature in most cases.

Characteristics

• Congenital disorders of the human skeletal system may differ depending on many factors. Congenital disorders of the skeletal system are usually inherited as a result of defective genes, either autosomal dominant or autosomal recessive.

Range

• Some disorders may affect individual bones or a group of bones; others may involve the entire skeletal system. A few disorders affect the axial system, i.e., the vertebrae and spine. Many affect the long bones of the body, such as those of the arms and legs.

Severity

• Congenital disorders of the human skeletal system range in severity. Some are incompatible with life and cause neonatal death. Others may incapacitate a person. Most, however, affect the eventual stature of the person's skeletal structure.

Diagnosis

• Congenital disorders of the skeletal system may have a combination of symptoms that are characteristic of a certain type. X-rays of the affected bones often indicate the type of congenital disorder the patient is suffering.

Classification

• Congenital skeletal system disorders have been subdivided historically into dysostoses, defined as malformations of individual bones or groups of bones, and osteochondrodysplasias, defined as developmental disorders of chondro-osseous tissues.

Genetics

• With better understanding of human genetics and its role in causing many disorders, it is now known that diseases once considered idiopathic (cause unknown) are in fact genetic and congenital disorders of the skeletal system.