Opitz C syndrome: Gene that causes rare disorder identified

New Delhi: A team of researchers claimed to have identified the gene that causes Opitz C syndrome in the only patient diagnosed with this ultra-rare disorder in Catalonia.

Opitz trigonocephaly C syndrome (OTCS), also known as C syndrome, is a genetic disease that causes severe disabilities in patients.

The condition is characterised by unusual facial features, trigonocephaly – in which the head is triangular in shape – a narrow pointed forehead, joints that are bent or in a fixed position, and loose skin among others. Developmental and learning disabilities are common.


Opitz C syndrome has been diagnosed in three people in the Iberian Peninsula, and sixty people in the world.

The finding from the University of Barcelona and the Biomedical Research Networking Center of Rare Diseases (CIBERER) are a first step to discover the genetic bases of this syndrome which, so far, does not offer treatment possibilities, prenatal diagnosis or genetic counseling.

According to Luis Serrano, director of CRG, “projects like this one show the important role of genomics in the future of medicine and the way on which we diagnose and treat diseases.

To understand the diseases and offering not only a diagnosis but also approaches to possible treatments is very relevant in minority diseases.

It is a satisfaction for the CRG to contribute with our knowledge and advanced technologies in a project that gives hope to a vulnerable collective” concluded the researcher.

The study is published in the journal Scientific Reports.

(With ANI inputs)