Opitz G/BBB syndrome
This article may be too technical for most readers to understand.(July 2015) |
Opitz G/BBB syndrome | |
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Other names | Hypertelorism-oesophageal abnormality-hypospadias syndrome |
Opitz G/BBB syndrome, also known as Opitz syndrome, G syndrome or BBB syndrome, is a rare
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.
Signs and symptoms
The three most common symptoms of Opitz G/BBB syndrome (both type I & II) are
Genital abnormalities like a urinary opening under the penis (hypospadias), undescended testes (cryptorchidism), underdeveloped scrotum and a scrotum divided into two lobes (bifid scrotum) can all be commonplace for males with the disease.[6]
Developmental delays of the brain and nervous system are also common in both types I and II of the disease.
Cause
Opitz G/BBB Syndrome is a rare genetic condition caused by one of two major types of mutations: MID1 mutation on the short (p) arm of the X chromosome or a mutation of the 22q11.2 gene on the 22nd chromosome.[10]
Mechanism
Both X-linked Type I and Autosomal dominant Type II Optiz G/BBB syndromes are caused by
In X-linked Type I patients, the mutation in the MID1 gene leads to less functional midline-1 proteins. These proteins are responsible for binding to the cytoskeleton and assist the cell during cell division. It seems these issues with early cell division have a significant impact on the physical deformities that typically accompany the disease.
Autosomal dominant Type II patients endure a mutation on chromosome 22, most commonly at 22q11.2. Some researchers consider Opitz G/BBB syndrome to be a type of 22q11.2 deletion syndrome (a slightly different and broader disease). In some cases of autosomal dominant Opitz G/BBB syndrome, the disease is caused by a mutation in the SPECC1L gene (near the 22q11.2 gene), which helps make cytospin-A. Cytospin-A is a protein imperative to the formation of facial features and is often considered responsible for the
Since physical abnormalities can affect all body parts along the midline of the body, many different body systems are at risk of being damaged. Those systems commonly affected are the
Diagnosis
X-linked type I Opitz G/BBB Syndrome is diagnosed on clinical findings, but those findings can vary greatly: even within the same family. Manifestations of X-linked type I are classified in the frequent/major findings and minor findings that are found in less than 50% of individuals.[14]
The three major findings that suggest a person has X-linked Type I Opitz G/BBB Syndrome:
- Ocular hypertelorism(~100% cases)
- Hypospadias (85-90% cases)
- Laryngotracheoesophageal abnormalities (60-70%)
Minor findings found in less than 50% of individuals:
- Intellectual disability
- Cleft lip/palate
- Congenital heart defects
- Imperforate (blocked) anus
- Brain defects (especially corpus callosum)
In 1989, Hogdall used ultra
There is also
Prevention
In terms of prevention, several researchers strongly suggest
Treatment
Because the variability of this disease is so great and the way that it reveals itself could be multi-faceted; once diagnosed, a multidisciplinary team is recommended to treat the disease and should include a
- Past medical history
- Physical examination with special attention to size and measurements of facial features, palate, heart, genitourinary system and lower respiratory system
- Eye evaluation
- Hypospadias assessment by urologist
- chest x-rayfor difficulties with breathing/swallowing
- Cleft lip/palate assessment by craniofacial surgeon
- Assessment of standard age developmental and intellectual abilities
- Anal position assessment
- Echocardiogram
- Cranial imaging
Many surgical repairs may be needed, as assessed by professionals. Furthermore, special education therapies and psychoemotional therapies may be required, as well. In some cases, antireflux drugs can be prescribed until risk of breathing and swallowing disorders are removed. Genetic counseling is highly advised to help explain who else in the family may be at risk for the disease and to help guide family planning decisions in the future.[19]
Because of its wide variability in which defects will occur, there is no known mortality rate specifically for the disease. However, the leading cause of death for people with Opitz G/BBB syndrome is due to infant death caused by aspiration due to esophageal, pharyngeal or laryngeal defects.[20] Fortunately, to date there are no factors that can increase the expression of symptoms of this disease. All abnormalities and symptoms are present at birth.[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
References
- Chen, J., & Chen, J. (2015, 7 19). Opitz GBBB Syndrome. Retrieved 7 19, 2015, from Hinsdale Township High School District 86: http://www.hinsdale86.org/staff/kgabric/Disease15/Opitz%20GBBB%20Syndrome/[permanent dead link]
- McKusick, V. A. (2015, March 17). Opitz GBBB Syndrome, Type I. Cleveland, Ohio, USA: Johns Hopkins University.
- McKusick, V. A. (2015, March 17). Opitz GBBB Syndrome, Type II. (C. L. Kniffin, Ed.) Cleveland, Ohio, USA: Johns Hopkins University.
- Meroni, G. (2012, August). Opitz G/BBB syndrome.
- Meroni, G. (2011, July 28). X-Linked Opitz G/BBB Syndrome. GeneReviews . Seattle, Washington, USA: University of Washington, Seattle.
- Right Diagnosis. (2015, April 17). Complications of Opitz G/BBB Syndrome. (Health Grades, Inc.) Retrieved July 28, 2015, from Right Diagnosis from healthgrades: http://www.rightdiagnosis.com/o/opitz_g_bbb_syndrome/complic.htm
- U.S. National Library of Medicine. (2015, January 1). Opitz G/BBB Syndrome. Retrieved July 19, 2015, from Genetics Home Reference: http://ghr.nlm.nih.gov/condition/opitz-g-bbb-syndrome
Notes
- ^ Chen, J., & Chen, J. (2015, 7 19). Opitz GBBB Syndrome. Retrieved 7 19, 2015, from Hinsdale Township High School District 86: http://www.hinsdale86.org/staff/kgabric/Disease15/Opitz%20GBBB%20Syndrome/[permanent dead link]
- ^ Meroni, G. (2011, July 28). X-Linked Opitz G/BBB Syndrome. GeneReviews . Seattle, Washington, USA: University of Washington, Seattle.
- ^ Meroni, G. (2011, July 28). X-Linked Opitz G/BBB Syndrome. GeneReviews . Seattle, Washington, USA: University of Washington, Seattle.
- ^ U.S. National Library of Medicine. (2015, January 1). Opitz G/BBB Syndrome. Retrieved July 19, 2015, from Genetics Home Reference: http://ghr.nlm.nih.gov/condition/opitz-g-bbb-syndrome
- ^ U.S. National Library of Medicine. (2015, January 1). Opitz G/BBB Syndrome. Retrieved July 19, 2015, from Genetics Home Reference: http://ghr.nlm.nih.gov/condition/opitz-g-bbb-syndrome
- ^ U.S. National Library of Medicine. (2015, January 1). Opitz G/BBB Syndrome. Retrieved July 19, 2015, from Genetics Home Reference: http://ghr.nlm.nih.gov/condition/opitz-g-bbb-syndrome
- ^ McKusick, V. A. (2015, March 17). Opitz GBBB Syndrome, Type I. Cleveland, Ohio, USA: Johns Hopkins University.
- ^ U.S. National Library of Medicine. (2015, January 1). Opitz G/BBB Syndrome. Retrieved July 19, 2015, from Genetics Home Reference: http://ghr.nlm.nih.gov/condition/opitz-g-bbb-syndrome
- ^ Meroni, G. (2011, July 28). X-Linked Opitz G/BBB Syndrome. GeneReviews . Seattle, Washington, USA: University of Washington, Seattle.
- ^ U.S. National Library of Medicine. (2015, January 1). Opitz G/BBB Syndrome. Retrieved July 19, 2015, from Genetics Home Reference: http://ghr.nlm.nih.gov/condition/opitz-g-bbb-syndrome
- ^ U.S. National Library of Medicine. (2015, January 1). Opitz G/BBB Syndrome. Retrieved July 19, 2015, from Genetics Home Reference: http://ghr.nlm.nih.gov/condition/opitz-g-bbb-syndrome
- ^ McKusick, V. A. (2015, March 17). Opitz GBBB Syndrome, Type I. Cleveland, Ohio, USA: Johns Hopkins University.
- ^ McKusick, V. A. (2015, March 17). Opitz GBBB Syndrome, Type I. Cleveland, Ohio, USA: Johns Hopkins University.
- ^ Meroni, G. (2011, July 28). X-Linked Opitz G/BBB Syndrome. GeneReviews . Seattle, Washington, USA: University of Washington, Seattle.
- ^ Meroni, G. (2011, July 28). X-Linked Opitz G/BBB Syndrome. GeneReviews . Seattle, Washington, USA: University of Washington, Seattle.
- ^ McKusick, V. A. (2015, March 17). Opitz GBBB Syndrome, Type I. Cleveland, Ohio, USA: Johns Hopkins University.
- ^ Meroni, G. (2011, July 28). X-Linked Opitz G/BBB Syndrome. GeneReviews . Seattle, Washington, USA: University of Washington, Seattle.
- ^ Meroni, G. (2011, July 28). X-Linked Opitz G/BBB Syndrome. GeneReviews . Seattle, Washington, USA: University of Washington, Seattle.
- ^ Meroni, G. (2011, July 28). X-Linked Opitz G/BBB Syndrome. GeneReviews . Seattle, Washington, USA: University of Washington, Seattle.
- ^ Right Diagnosis. (2015, April 17). Complications of Opitz G/BBB Syndrome. (Health Grades, Inc.) Retrieved July 28, 2015, from Right Diagnosis from healthgrades: http://www.rightdiagnosis.com/o/opitz_g_bbb_syndrome/complic.htm
- ^ Meroni, G. (2011, July 28). X-Linked Opitz G/BBB Syndrome. GeneReviews . Seattle, Washington, USA: University of Washington, Seattle.