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...
by CheckRare Staff | May 2, 2017
Behr syndrome is characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in...
