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.

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.

Last Updated: 26 Mar 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 2 free, full-text research articles on human participants. First 3 results:

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

Go To URL
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

Go To URL

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.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Study of Smith-Lemli-Opitz Syndrome
 

Status: Recruiting

Condition Summary: Abnormalities; Inborn Errors of Metabolism; Mental Retardation; Muscle Hypotonia; Smith Lemli Opitz Syndrome

 

Last Updated: 20 Aug 2014

Go to URL
Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome
 

Status: Recruiting

Condition Summary: Smith-Lemli-Opitz Syndrome

 

Last Updated: 23 Jun 2005

Go to URL
Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome
 

Status: Recruiting

Condition Summary: Smith-Lemli-Opitz Syndrome

 

Last Updated: 18 Sep 2012

Go to URL