Opitz G/BBB syndrome
- BBB syndrome
- G syndrome
- GBBB 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. These features may vary, even among members of 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 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.
- Opitz G/BBB syndrome. Genetics Home Reference. January 2015; http://ghr.nlm.nih.gov/condition/opitz-g-bbb-syndrome. Accessed 8/11/2015.
- Genetics Home Reference (GHR) contains information on Opitz G/BBB syndrome. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
X-linked Opitz G/BBB syndrome
Autosomal dominant Opitz G/BBB syndrome
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Opitz G/BBB syndrome. Click on the link to view a sample search on this topic.