Conradi-Hünermann Syndrome

Conradi-Hünermann syndrome is a rare genetic disease that manifests itself in the form of cystic deformation of bones and cartilage. It occurs in only 1 person in 60 million people.

The development of the syndrome occurs in the womb. It is associated with mutations in genes that are responsible for the development of the lungs, bronchi, heart, blood vessels and other organs. Sometimes mutations occur in genes that regulate skin growth and development.

The main signs of the disease are abnormalities of the skeleton, respiratory tract, eyes, lungs and heart. Patients may suffer from deformities of the skull, ears, nose, teeth, jaw, neck, arms and legs. Some patients develop cysts of the lung, bronchus, arteries, and veins. Less common is cystic brain lesions. Cysts of the spleen, liver, ovaries, and uterus may also occur.