Complex are the various forms of genetic conditions that exist and how they are detected. Discovering the syndromes, identifying the characteristics, and understanding the prognoses, especially of the rare and compound disorders. Many parents must accept the distressing news pre or post-partum that their child they have nurtured for nine-months may have chromosomal abnormalities.
Fortunately, modern medicine has ascertained more specifics about syndromes that once left doctors in search of answers. Opitz/G Syndrome also sometimes called Opitz G/BBB Syndrome is a compound syndrome that affects approximately one in 50,000 children.
Mutation of the MID1 gene has been detected which causes a lack of production of a particular protein called Midin. This protein helps to regulate the function of microtubules, which are rigid, hollow fibers that make up the cell’s structural framework (the cytoskeleton). Microtubules also help to maintain their shape, assist in the process of cell division, and are essential, for the transport of materials within the cell. (Global Genes, pg.
2) Symptoms of Opitz G/BBB disorder may be, hypospadias in males. This is an abnormal opening of the urethra on the underside of the penis that may sometimes extend as a cleft through the scrotum. (Children’s Hospital of Philadelphia, pg. 1)
This syndrome can cause malformations of the face, respiratory issues, irregularities within the heart, midline defects, and malformation of the brain causing abnormalities in mentality. Development varies from mildly mentally retarded to average intelligence, most fall within the borderline area. (NORD, pg. 1) A profile of nonverbal learning disabilities is common, with reading achievement superior to arithmetic achievement, and also displays of severe language delays.
Neuropsychological assessment reveals a weakness in visual-spatial memory.(ScienceDirect, pg. 2) This disorder is categorized as an inherited autosomal dominant gene, merely being passed from one parent to the child. It is believed to be carried by the X chromosome and primarily affects males, but females may be carriers of this gene. This diagnosis was first believed to be two separate entities, displaying similar symptoms but has since been considered as one disorder. At this time there is little known about chromosome #22.
Researchers, however, have discovered that a microscopic piece of the X chromosome is missing, this may be the cause of the developmental malformations.This anomaly may be referred to as a larger condition identified as, Chromosome 22q11.2 Deletion Syndrome. (CHOP, pg. 1) The children born with this condition are subject to trouble swallowing, eating, breathing, physical and language development delays. Most doctors, unfortunately, still do not know all there is to know about this disorder. Specialists in the diagnosis of chromosomal defects may recommend a hearing test, echocardiogram and genetic counseling for the family.
Most abnormalities associated with Opitz G/BBB Syndrome may be corrected with surgery but there is no known correction for the mental aspect of development. Physical, occupational, feeding, and speech therapy may help with some developmental delays and is frequently prescribed by doctors. Reflux medications may be used to avoid the risk of aspiration, educational, and neuropsychological therapy support. For the most severe cases, a tracheostomy may be performed to assist with the difficulty of breathing. Parents must be dedicated advocates for their children to see that they obtain the benefits in its entirety from the most skilled medical care as needed. The long-term outlook also differs with severity, the more severe the brain abnormalities are, the dimmer the future perspective becomes. A specific case involving a young man diagnosed with G-Syndrome, now in his 30’s, possessed his share of obstacles to overcome from day one.
At birth in 1987, after delivery, the doctor noted the newborn was not breathing on his own. Specialists were ordered to the delivery room STAT, after several minutes he ultimately began to breathe. This little man was cared for in the newborn intensive-care unit for a week and finally was able to go home with his family. As time passed, some facial differences were noted with very noticeable developmental delays as low muscle tone causing him to fall behind of the usual developmental milestones. The parents being extremely proactive and transported him to numerous doctors including physicians at prominent hospitals such as NYU, in New York City. By 1992 at age five, he was diagnosed with Opitz G/BBB Syndrome. Exhibiting more characteristics of the Opitz-G portion of the syndrome, they began to refer to his disorder as G-Syndrome. After years of therapy in all areas, he is currently a remarkable high functioning special needs adult, able to read, write and drive. This extraordinary young man is an inspiration to everyone who knows him.The word syndrome means characteristics that run together. Derived from the Greek form of syn/meaning together and drone/meaning run. (NHGRI, 2019)
Combining the specific characteristics or traits of an individual and typically employing the discovering doctor’s last name, the syndrome is given a name and researched. There have been many medical breakthroughs in the genetics field in the past thirty years, but there is still so much to uncover. With computers, we can now research points of interest, signs, and symptoms on our own. There are outstanding organizations to increase awareness, knowledge and support the parents and families of these rare syndromes. Just a few are NORD (National Organization for Rare Disorders,) Rare Disease Database, Global Genes (Allies in Rare Disease) and GARD (Genetic and Rare Diseases Information Center). (CHOP, et al.) We are so fortunate to have medical researchers working diligently to discover the causes, effects, and possibly one day a cure, for some of these disorders that are life-altering, rare and compound syndromes.
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