Autosomal dominant inheritance in TCS

Treacher Collins Syndrome has a variable degree of expression. Often Treacher Collins Syndrome is due to a so called new mutation. To distinguish familial occurence from a new mutations DNA analysis can be performed.

Last modified
17 August 2018

When a parent transmits a disease to his or her children the disease may be an autosomal dominant disorder. The cause can be found in genes. An abnormal gene...

Rare Condition

Treacher Collins Syndrome

Treacher Collins Syndrome is a genetic disorder characterized by hypoplasia of facial bones (mandible, maxilla and cheek bone), antimongoloid slant of palpebral fissures, coloboma of...