Don’t fight Caffey disease alone.Find your community on the free RareGuru App.
Caffey disease is a bone disorder that most often occurs in babies. It is characterized by the excessive formation of new bone (hyperostosis) in the jaw, shoulder blades, collarbones, and shafts of long bones in the arms and legs. Affected bones may double or triple in width. In some cases, two bones that are next to each other may become fused. Caffey disease is caused by a mutation in the COL1A1 gene. It is inherited in an autosomal dominant pattern, but not all people who inherit the mutation develop signs and symptoms. This is due to incomplete penetrance.
Source: GARD Last updated on 05-01-20
Caffey disease is characterized by excessive new bone formation (hyperostosis). The bone abnormalities mainly affect the jawbone, shoulder blades, collarbones, and the shafts of long bones in the arms and legs. Affected bones may double or triple in width. In some cases, two bones in the forearms or lower legs become fused together. Babies with this condition may also develop swelling of joints and soft tissues with pain and redness in the affected areas. They may also be feverish and irritable.
The signs and symptoms of Caffey disease are usually apparent by the time an infant is 5 months old. In rare cases, skeletal abnormalities can be detected by ultrasound during the late stages of pregnancy. For unknown reasons, the swelling and pain associated with Caffey disease tend to go away within a few months. The excess bone also disappears as it is reabsorbed by the body through a normal process called bone remodeling. If two bones have been fused, they may remain that way, which can lead to complications such as scoliosis and breathing problems.
Most people with Caffey syndrome have no further problems related to the disorder after early childhood. Occasionally, another episode of hyperostosis occurs years later. In addition, some adults who had Caffey disease have other abnormalities of the bones and connective tissues, including loose joints, stretchy skin or hernias.
Last updated on 05-01-20
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!