22q11.2 Deletion Syndrome

22q11.2 deletion syndrome is a disorder that involves many different areas of the body and can vary greatly in severity among people with the condition.

Ring Chromosome 20 Syndrome

Other Names: Ring-Shaped Chromosome 20 or r(20) Syndrome Ring Chromosome 20 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...

Ollier Disease

Other Names: Multiple cartilaginous enchondroses; Dyschondroplasia; Enchondromatosis   Ollier Disease is a rare nonhereditary sporadic disorder where intraosseous benign cartilaginous tumors (enchondroma) develop close to growth plate cartilage. Prevalence of...

Jacobsen Syndrome

Other Names:  11q deletion disorder 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...
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