Hypertelorism with esophageal abnormality and hypospadias

Common Name(s)

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

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 "Hypertelorism with esophageal abnormality and hypospadias" 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 "Hypertelorism with esophageal abnormality and hypospadias" 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 "Hypertelorism with esophageal abnormality and hypospadias" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hypertelorism with esophageal abnormality and hypospadias" returned 0 free, full-text review articles on human participants.

 
 
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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: 18 Jul 2014

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

Status: Recruiting

Condition Summary: Smith-Lemli-Opitz Syndrome

 

Last Updated: 23 Jun 2005

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

Status: Recruiting

Condition Summary: Smith-Lemli-Opitz Syndrome

 

Last Updated: 18 Sep 2012

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