Opitz G/BBB syndrome

rdf:langString Opitz G/BBB syndrome

rdf:langString Opitz G/BBB syndrome

rdf:langString Opitz G/BBB syndrome

rdf:langString Q87.8

rdf:langString InternetArchiveBot

rdf:langString April 2020

rdf:langString yes

rdf:langString Hypertelorism-oesophageal abnormality-hypospadias syndrome

rdf:langString Opitz G/BBB syndrome, also known as Opitz syndrome, G syndrome or BBB syndrome, is a rare genetic disorder that will affect physical structures along the midline of the body. The letters G and BBB represent the last names of the families that were first diagnosed with the disorder, while Opitz is the last name of the doctor that first described the signs and symptoms of the disease. There are two different forms of Optiz G/BBB syndrome: x-linked (recessive) syndrome (Type I; XLOS; OSX) and dominant autosomal syndrome (Type II; ADOS). However, both result in common physical deformities, although their pattern of inheritance may differ. Several other names for the disease(s) are no longer used. These include hypospadias-dysphagia syndrome, Opitz-Frias syndrome, telecanthus with associated abnormalities, and hypertelorism-hypospadias syndrome. One out of every 50,000 to 100,000 males is born with X-linked type II Optiz G/BBB syndrome, but professionals believe that condition is under diagnosed and there are actually many more cases. It is unknown as to how many autosomal dominant cases exist. However, the autosomal dominant cases are also categorized under a more commonly diagnosed group called 22q11.2 deletion syndrome. This group includes several other diseases that all result because of a small deletion of chromosome 22 at the q11.2 location.