Opitz G/BBB syndrome
- BBB syndrome
- G syndrome
- GBBB syndrome
- Hypertelorism hypospadias syndrome
- Hypertelorism with esophageal abnormality and hypospadias
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.Treatment depends on the individual’s specific needs.
- Opitz G/BBB syndrome. Genetics Home Reference. January 2015; http://ghr.nlm.nih.gov/condition/opitz-g-bbb-syndrome. Accessed 8/11/2015.
- McDonald-McGinn DM, Emanuel BS & Zackai EH. 22q11.2 deletion syndrome. GeneReviews. February 28, 2013; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=gr_22q11deletion. Accessed 9/22/2015.
- 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.