Achondrogenesis is a group of severe disorders that affect cartilage and bone development. As a result of serious health problems, infants with achondrogenesis usually die before birth, are stillborn, or die soon after birth from respiratory failure. Some infants, however, have lived for a short time with intensive medical support. [Read More]

Wilsons disease is an inherited genetic disorder affecting copper levels in the body.

Typically, signs and symptoms of Wilsons disease first appear between the ages of 6-40, but they usually appear during the teenage years.

Liver disease is usually the initial feature of Wilsons disease in people between the ages of 6-45. Signs and symptoms of liver disease include:

• jaundice
• fatigue
• loss of appetite
• abdominal swelling

Job syndrome is a condition that affects several body systems, particularly the immune system. Recurrent infections are common in people with this condition.

Affected individuals tend to have frequent bouts of pneumonia, which are caused by certain kinds of bacteria that infect the lungs and cause inflammation. Recurrent skin infections and an inflammatory skin disorder called eczema are also very common in Job syndrome. These skin problems cause rashes, blisters, collections of pus (abscesses), open sores, and scaling.

Knee problems are a common complaint in people of all ages. The knee is made of and supported by many anatomical structures. Injury or destruction to these structures can cause knee problems. Conditions can be congenital in which a child is born with the abnormality. Some knee problems may occur for no known cause.

Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body. Different types of nonsyndromic deafness are named according to their inheritance patterns.

Pain is a universally-understood sensation of discomfort, distress, or agony that results from stimulation of specialized nerve endings. It serves as a protective mechanism in that painful stimuli often coincide with tissue damage. Avoidance of pain is a powerful survival mechanism, and the motivation to avoid pain is as deep-seated as are the drives to obtain food and reproduce. It is defined by the International Association for the Study of Pain as "an unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage."