Peters-plus syndrome

Peters Plus Syndrome

Diagram of autosomal recessive inheritance pattern

Peters Plus Syndrome is a rare genetic disorder characterized by a combination of ocular, craniofacial, and skeletal abnormalities. It is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the syndrome.

Clinical Features

Peters Plus Syndrome is primarily identified by the presence of Peters anomaly, which involves defects in the anterior segment of the eye, leading to corneal opacity and potential glaucoma. Other ocular features may include microphthalmia and cataracts.

In addition to ocular abnormalities, individuals with Peters Plus Syndrome often exhibit distinctive craniofacial features such as a prominent forehead, a broad nasal bridge, and a long philtrum. Skeletal abnormalities may include short stature and brachydactyly.

Genetic Basis

The syndrome is caused by mutations in the B3GALTL gene, which is located on chromosome 13. This gene is responsible for encoding an enzyme involved in the glycosylation of proteins, a process crucial for normal development.

Diagnosis

Diagnosis of Peters Plus Syndrome is based on clinical evaluation, family history, and genetic testing to identify mutations in the B3GALTL gene. Prenatal diagnosis is possible if the genetic mutation is known in the family.

Management

Management of Peters Plus Syndrome is symptomatic and supportive. Ophthalmologic interventions may be necessary to address vision problems, and regular monitoring for glaucoma is recommended. Early intervention and special education services can help address developmental delays.

Related Pages

• Peters anomaly
• Autosomal recessive disorder
• Genetic testing