Optiz C Syndrome
Optiz C syndrome (OCS) is an ultra-rare condition whose symptoms are often mistaken for Bohring-Optiz syndrome, Kabuki syndrome, or Kleefstra syndrome. The disease affects patients physical and intellectual abilities however the severity of symptoms vary significantly between patients. These symptoms include trigonocephaly and psychomotor retardation among others.
OCS is so rare that there are only a handful of patients diagnosed across the globe. It was first described by John M. Optiz in 1969. Our lack of knowledge surrounding this condition is still so extreme that prenatal diagnosis, genetic counseling, and treatment as a whole, are currently inaccessible.
Many are living with incorrect or incomplete diagnoses purely because of the lack of knowledge surrounding this condition.
OCS is so difficult to diagnose because it has a heterogenous genetic base not shared among patients. In other words, although patients share many clinical signs of disease, their genetic base is different. Additionally, the hereditary transmission of this condition is still not well understood.
Researchers from the Group on Human Molecular Genetics are working to broaden our understanding of the genetic basis of this disease. This group is composed of scientists from the University of Barcelona as well as the Rare Diseases Networking Biomedical Research Centre (CIBERER).
Researchers explain that especially for ultra-rare conditions, we need to utilize new technology that has the capacity to complete whole-exome sequencing. This, they believe, will allow them to determine the exact molecular diagnosis of patients. Once the diagnosis is known to be accurate, they can work more efficiently at developing the most appropriate approach for treating it.
In order to accomplish these goals, they contend that international collaboration will be necessary. As more researchers have become involved in the study of OCS we have learned more and more about its manifestation. Slowly but surely we are making progress in developing an effective treatment for this patient population.
You can read more about the ongoing research in OCS here.