Opitz G/BBB syndrome
- Hypospadias-dysphagia, syndrome
- Opitz-Frias syndrome
- G syndrome
- Opitz-G syndrome, type 2
- Hypertelorism hypospadias syndrome
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 12/10/2015.
- 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.
- 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.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.