by CheckRare Staff | May 7, 2017
Ring Chromosome 20 syndrome is a rare human chromosome abnormality where the two arms of chromosome 20 fuse to form a ring chromosome. The syndrome is associated with epileptic seizures, behaviour disorders and mental retardation. When not all cells contain a ring...
by CheckRare Staff | May 6, 2017
Ollier Disease is a rare nonhereditary sporadic disorder where intraosseous benign cartilaginous tumors (enchondroma) develop close to growth plate cartilage. Prevalence is about 1 in 100,000 people. The disease typically consists of multiple enchondromas which...
by CheckRare Staff | May 4, 2017
Jacobsen Syndrome is a rare congenital disorder resulting from deletion of a terminal region of chromosome 11 that includes band 11q24.1. It can cause intellectual disabilities, a distinctive facial appearance, and a variety of physical problems including heart...
by CheckRare Staff | May 3, 2017
Fabry disease is an inherited disorder that results from the buildup of a particular type of fat in the body’s cells, called globotriaosylceramide or GL-3. The disorder affects many parts of the body. Signs and symptoms may include episodes of pain, particularly...
by CheckRare Staff | May 3, 2017
Dupuytren’s contracture is a flexion contracture of the hand in which the fingers bend towards the palm and cannot be fully extended. It is caused by a palmar fibromatosis. The disease is an inherited proliferative connective tissue disorder that involves the...
