[2] One out of every 50,000 to 100,000 males is born with X-linked type II Optiz G/BBB syndrome, but professionals believe that condition is under diagnosed and there are actually many more cases.
[4] The three most common symptoms of Opitz G/BBB syndrome (both type I & II) are hypertelorism (exceptionally wide-spaced eyes), laryngo-tracheo-esophalgeal defects (including clefts and holes in the palate, larynx, trachea and esophagus) and hypospadias (urinary openings in males not at the tip of the penis) (Meroni, Opitz G/BBB syndrome, 2012).
Abnormalities in the larynx, trachea and esophagus can cause significant difficulty breathing and/or swallowing and can result in reoccurring pneumonia and life-threatening situations.
Commonly, there may be a gap between the trachea and esophagus, referred to as a laryngeal cleft; which can allow food or fluid to enter the airway and make breathing and eating a difficult task.
Cytospin-A is a protein imperative to the formation of facial features and is often considered responsible for the cleft lip or palate that Opitz G/BBB syndrome patients will have.
Patients will commonly experience physical defects in the larynx, trachea and esophagus and will often cause breathing and swallowing difficulties.
[14] The three major findings that suggest a person has X-linked Type I Opitz G/BBB Syndrome: Minor findings found in less than 50% of individuals: [15] In 1989, Hogdall used ultrasonographs to diagnose X-linked Type I Opitz G/BBB Syndrome after 19 weeks of pregnancy, by identifying hypertelorism (widely-spaced eyes) and hypospadias (irregular urinary tract openings in the penis).
[17] In terms of prevention, several researchers strongly suggest prenatal testing for at-risk pregnancies if a MID1 mutation has been identified in a family member.
Doctors can perform a fetal sex test through chromosome analysis and then screen the DNA for any mutations causing the disease.
Furthermore, genetic counseling for young adults that are affected, are carriers or are at risk of carrying is strongly suggested, as well (Meroni, Opitz G/BBB syndrome, 2012).
The only education for prevention suggested is genetic testing for at-risk young adults when a mutation is found or suspected in a family member.
[21] Since the symptoms caused by this disease are present at birth, there is no “cure.” The best cure that scientists are researching is awareness and genetic testing to determine risk factors and increase knowledgeable family planning.