Opitz syndrome

Opitz syndrome is a genetic disorder characterized by several abnormalities including defects in the midline of the body and intellectual disability. The condition is also known as Opitz G/BBB syndrome and Opitz-Frias syndrome.

Symptoms and Signs

The symptoms of Opitz syndrome can vary greatly among affected individuals. Common symptoms include hypertelorism (widely spaced eyes), cleft lip or cleft palate, and defects in the heart, lungs, and digestive system. Some individuals may also have hypospadias (a condition where the opening of the urethra is on the underside of the penis), cryptorchidism (undescended testicles), and intellectual disability.

Causes

Opitz 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. Mutations in the MID1 gene disrupt this regulation, leading to the abnormalities seen in Opitz syndrome.

Diagnosis

Diagnosis of Opitz 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 syndrome is symptomatic and supportive. This may include surgery to correct physical abnormalities, speech therapy for those with a cleft lip or palate, and special education services for those with intellectual disability.

Prognosis

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

See Also

• Genetic disorder
• Cleft lip and palate
• Intellectual disability

NIH genetic and rare disease info

• NIH info on Opitz syndrome

Opitz syndrome is a rare disease.

Opitz syndrome Resources
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