Genetic disease (Opitz G/BBB) research
Origin and Discovery:
In 1969, Dr. John Opitz described two similar conditions that he called G syndrome and BBB syndrome. Further research suggested that these two conditions were one disorder but researchers could not agree on how this disorder was inherited. It wasn't until 1995 that one type of Opitz syndrome was linked to 22q deletion syndrome. The 22q11.2 deletion is now thought to be the original cause of the medical problems for some patients with Opitz G/BBB syndrome.
Symptoms and Diagnosis:
Opitz G/BBB syndrome is a genetic condition that affects several structures along the midline of the body. The most common features of this condition are: •wide-spaced eyes (hypertelorism)
•defects of the larynx, and trachea, causing breathing problems and difficulty swallowing (dysphagia
•in males, the urethra opening on the underside of the penis (hypospadias).
Mild intellectual disability occurs in fewer than 50 percent of people with Opitz G/BBB
.
syndrome, most likely caused by structural defects in the brain. About half of affected .
.
individuals also have cleft lip with or without a cleft palate (an opening in the roof of the
.
mouth). Some have cleft palate alone. Heart defects, an obstruction of the anal opening .
.
(imperforate anus), and brain defects such as an absence of the tissue connecting the left .
.
and right halves of the brain (corpus callosum) occur in less than 50 percent of those . . . .
.
affected. Facial abnormalities that may be seen in this disorder include a flat nasal bridge, thin upper lip, and low set ears. These features vary among affected individuals, even within the same family.
There are two forms of Opitz G/BBB syndrome, which are distinguished by their genetic causes and patterns of inheritance. The
X-linked form of Opitz G/BBB syndrome is caused by a mutation in a specific gene, MID1, on the X chromosome. Autosomal dominant Opitz G/BBB syndrome is caused by a mutation in an as-yet unidentified gene
In 1969, Dr. John Opitz described two similar conditions that he called G syndrome and BBB syndrome. Further research suggested that these two conditions were one disorder but researchers could not agree on how this disorder was inherited. It wasn't until 1995 that one type of Opitz syndrome was linked to 22q deletion syndrome. The 22q11.2 deletion is now thought to be the original cause of the medical problems for some patients with Opitz G/BBB syndrome.
Symptoms and Diagnosis:
Opitz G/BBB syndrome is a genetic condition that affects several structures along the midline of the body. The most common features of this condition are: •wide-spaced eyes (hypertelorism)
•defects of the larynx, and trachea, causing breathing problems and difficulty swallowing (dysphagia
•in males, the urethra opening on the underside of the penis (hypospadias).
Mild intellectual disability occurs in fewer than 50 percent of people with Opitz G/BBB
.
syndrome, most likely caused by structural defects in the brain. About half of affected .
.
individuals also have cleft lip with or without a cleft palate (an opening in the roof of the
.
mouth). Some have cleft palate alone. Heart defects, an obstruction of the anal opening .
.
(imperforate anus), and brain defects such as an absence of the tissue connecting the left .
.
and right halves of the brain (corpus callosum) occur in less than 50 percent of those . . . .
.
affected. Facial abnormalities that may be seen in this disorder include a flat nasal bridge, thin upper lip, and low set ears. These features vary among affected individuals, even within the same family.
There are two forms of Opitz G/BBB syndrome, which are distinguished by their genetic causes and patterns of inheritance. The
X-linked form of Opitz G/BBB syndrome is caused by a mutation in a specific gene, MID1, on the X chromosome. Autosomal dominant Opitz G/BBB syndrome is caused by a mutation in an as-yet unidentified gene