Keutel syndrome

Keutel syndrome is a rare condition marked by the buildup of calcium in many of the body's cartilage tissues. This calcification can result in changes to the structure of cartilage, along with brachytelephalangism (short fingers) and narrowing of the peripheral pulmonary arteries, which can affect heart and lung function. People with this condition may also have distinctive facial characteristics. The combination of these features helps healthcare providers in identifying and managing the disorder.

Common signs of Keutel syndrome include calcification of cartilage, shortened fingers (brachytelephalangism), narrowing of the pulmonary arteries, and unique facial features. Detailed information on how these symptoms appear in each person is limited.

Keutel syndrome is associated with changes in the MGP gene. The MGP gene normally helps to control the deposition of calcium in the body. When this gene does not work as it should, it can lead to abnormal calcification in cartilage and other tissues.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.