Opitz G/BBB syndrome

Opitz G/BBB syndrome is a genetic disorder characterized by several abnormalities along the midline of the body. The condition was first described by John Opitz, a geneticist, and hence, it bears his name. The syndrome is also known as Opitz-Frias syndrome or Opitz syndrome.

Symptoms and Signs

The symptoms of Opitz G/BBB syndrome can vary greatly among affected individuals. Common features include hypertelorism (widely spaced eyes), cleft lip or cleft palate, and abnormalities in the larynx, heart, and urinary system. Some individuals may also have intellectual disability or learning difficulties.

Causes

Opitz G/BBB syndrome is caused by mutations in the MID1 gene. This gene provides instructions for making a protein that is involved in the regulation of other proteins within the cell. Mutations in the MID1 gene disrupt this regulation, leading to the abnormalities seen in Opitz G/BBB syndrome.

Diagnosis

Diagnosis of Opitz G/BBB syndrome is based on the presence of characteristic signs and symptoms. Genetic testing can confirm the diagnosis by identifying a mutation in the MID1 gene.

Treatment

Treatment for Opitz G/BBB syndrome is symptomatic and supportive. It may include surgery to correct physical abnormalities, speech therapy for those with a cleft lip or palate, and educational support for those with learning difficulties.

Prognosis

The prognosis for individuals with Opitz G/BBB syndrome varies depending on the severity of symptoms. With appropriate treatment and support, many individuals with this condition lead healthy, productive lives.

See Also

• Genetic disorders
• Cleft lip and palate
• Hypertelorism
• Intellectual disability

References

• Opitz JM, Frias JL, Gutenberger JE, Pellet JR. The G syndrome of multiple congenital anomalies. Birth Defects Orig Artic Ser. 1969;5(2):95-101.
• Quaderi NA, Schweiger S, Gaudenz K, et al. Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nat Genet. 1997;17(3):285-291.

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