Opitz G/BBB syndrome

Opitz G/BBB syndrome is a condition that causes several physical differences which are often present at birth. It is marked by malformations of the midline of the body, affecting areas such as the face and the structures of the throat. People with this condition may have wide-set eyes (hypertelorism) and abnormalities in the throat and esophagus, which can influence how they breathe and swallow. There are two main types of this syndrome that are genetically similar but inherited in different ways. One type is X-linked, meaning the gene responsible is on the X chromosome, while the other type is autosomal dominant and can be passed down from one affected parent. This information helps in understanding how the condition may be passed through families.

People with Opitz G/BBB syndrome often show signs that affect the middle of the body. Common features include wide-set eyes (hypertelorism), defects that affect the voice box, windpipe, and esophagus (laryngo-tracheo-esophageal abnormalities), and in males, an unusual placement of the urethral opening (hypospadias).

This condition is caused by genetic changes. There are two forms based on the pattern of inheritance: the X-linked form, where the responsible genetic change is on the X chromosome, and the autosomal dominant form, where a change in one copy of the gene is enough to cause the condition. Details about specific genes are not available from the current information.

Information about treatment options is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.