Baller Gerold Syndrome Essay

Baller-Gerold Syndrome is a genetic disorder that causes major physical debilitations and can cause development delays, or even at times learning or behavioural problems. It is a disease that is caused by a gene mutation, and at times the environment (NORD, 2006). The gene that is affected RECQL4, in one of the autosomal chromosomes (Genetics Home Reference, N.D). It causes changes to the appearance, of the person who unfortunately inherited the trait, in ways that they have deformed or disfigured body parts. Example of this would be abnormal shape of the skull and, bulging eyes with shallow eye sockets. The disease got its name from the two scientists who were able to describe what the deadly disease actually was (Dorland, 2011). The RECQL4 …show more content…
In clinical testing they might conduct a sequence analysis which is the the process of subjecting a DNA, RNA or peptide sequence to any of a wide range of analytical methods to understand its features, function, structure, or evolution (Maldergem, Lionel Van, June-7-2011). Prenatal precautions are also taken if any suspicion of the trait being handed down to you is assumed. They might use one of the three testing methods which are: molecular genetic testing, ultrasound examination, or Preimplantation genetic diagnosis (Maldergem, Lionel Van, …show more content…
They might also conduct surgery in order to try and relieve some of the pressure from the skull. This procedure has proven more successful for the younger patients (NORD, October-30-2006). Normally when the diagnosis is made the patient is recommended to surgery immediately. Operation on the younger children age of six months, is more common, to repair the skull bones; pollicization of the index finger as needed to create a functional grasp. The worst things that can occur if surgery is not performed is developmental delays,learning and behavioral problems, or vision problems ( Boston Children's Hospital.