A very rare syndrome characterized by abnormalities of the bones of the skeleton as well as mental retardation. Various facial, eye and urogenital anomalies are also present.  Read More

Chromosome 21 Ring is a rare chromosomal disorder in which the affected infant has a breakage of chromosome 21 at both ends, and the ends of the chromosome join together to form a ring. The amount of genetic material lost at the two ends of the chromosome may vary. As a result, an infant with very little absent genetic material may have no apparent symptoms while an infant with a significant part of the chromosomal ends missing may have many s  Read More