life expectancy

Kleefstra Syndrome

Kleefstra syndrome (KS) occurs when there is a tiny piece of chromosome 9 missing or deleted.  An individual may also develop the disorder after a gene mutation or intragenic duplication.  People with Kleefstra syndrome have intellectual disability and other complex clinical and physical features. The [Read More]

Treacher Collins Syndrome

Treacher Collins Syndrome is a rare bone condition. It affects the development of facial bones and other tissues. The symptoms of this disorder vary depending on the person. In some cases, the symptoms are hardly noticeable. This is disorder is so rare that it is [Read More]

Microcephaly

Microcephaly is a disorder characterized by small size of skull and associated less development of brain. The size of head is compared with that of infants of the same age and sex. This can be caused either due to incomplete growth of brain in womb [Read More]