Opitz G/BBB syndrome

Common Name(s)

Opitz G/BBB syndrome, Opitz Frias syndrome, Hypertelorism hypospadias syndrome, Hypertelorism with esophageal abnormality and hypospadias

Opitz G/BBB syndrome is an inherited condition that affects several structures along the midline of the body. The most common features are wide-spaced eyes and defects of the larynx, trachea, and/or esophagus causing breathing problems and difficulty swallowing. Affected males usually have a urethra opening on the underside of the penis (hypospadias). Other features can include mild intellectual disability, cleft lip and/or a cleft palate, heart defects, an obstruction of the anal opening (imperforate anus), agenesis of the corpus callosum, and facial abnormalities.

There are two forms of Opitz G/BBB syndrome, which are distinguished by their genetic causes and patterns of inheritance. The X-linked form is caused by mutations in the MID1 gene. Autosomal dominant Opitz G/BBB syndrome is caused by a deletion of 22q11.2, and is often referred to as 22q11.2 deletion syndrome.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Opitz G/BBB syndrome" for support, advocacy or research.

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Opitz G/BBB Family Network

Our mission is to offer emotional support and sharing of information for families affected by the challenges and joys of the Opitz syndromes.

Last Updated: 26 Mar 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Opitz G/BBB syndrome" for support, advocacy or research.

Logo
Opitz G/BBB Family Network

Our mission is to offer emotional support and sharing of information for families affected by the challenges and joys of the Opitz syndromes.

http://www.opitzfamilynetwork.com

Last Updated: 26 Mar 2013

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Opitz G/BBB syndrome" returned 3 free, full-text research articles on human participants. First 3 results:

Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.
 

Author(s): Paul Kruszka, Dong Li, Margaret H Harr, Nathan R Wilson, Daniel Swarr, Elizabeth M McCormick, Rosetta M Chiavacci, Mindy Li, Ariel F Martinez, Rachel A Hart, Donna M McDonald-McGinn, Matthew A Deardorff, Marni J Falk, Judith E Allanson, Cindy Hudson, John P Johnson, Irfan Saadi, Hakon Hakonarson, Maximilian Muenke, Elaine H Zackai

Journal: J. Med. Genet.. 2015 Feb;52(2):104-10.

 

Opitz G/BBB syndrome is a heterogeneous disorder characterised by variable expression of midline defects including cleft lip and palate, hypertelorism, laryngealtracheoesophageal anomalies, congenital heart defects, and hypospadias. The X-linked form of the condition has been associated ...

Last Updated: 20 Jan 2015

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X-linked Opitz G/BBB syndrome: identification of a novel mutation and prenatal diagnosis in a Korean family.
 

Author(s): Hyun-Jung Cho, Mee-yong Shin, Kang-Mo Ahn, Sang Il Lee, Hee-Jin Kim, Chang-Seok Ki, Jong-Won Kim

Journal: J. Korean Med. Sci.. 2006 Oct;21(5):790-3.

 

X-linked Opitz G/BBB syndrome (XLOS; MIM 300000) is a rare multiple congenital anomaly disorder that is characterized by facial anomalies, laryngeal/tracheal/esophageal defects and genitourinary abnormalities. XLOS is caused by mutations in the MID1 gene which encodes a microtubule-associated ...

Last Updated: 17 Oct 2006

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Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain.
 

Author(s): K Gaudenz, E Roessler, N Quaderi, B Franco, G Feldman, D L Gasser, B Wittwer, J Horst, E Montini, J M Opitz, A Ballabio, M Muenke

Journal: Am. J. Hum. Genet.. 1998 Sep;63(3):703-10.

 

The MID1 gene in Xp22 codes for a novel member of proteins containing a RING finger, B-box, coiled-coil and a conserved C-terminal domain. Initially, three mutations in the C-terminal region were found in patients with Opitz G/BBB syndrome, a defect of midline development. Here we ...

Last Updated: 20 Oct 1998

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Opitz G/BBB syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.