Peters plus syndrome

Peters plus syndrome is an inherited condition that is characterized by eye abnormalities, short stature, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), distinctive facial features, and intellectual disability ...1

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Symptoms of Peters plus syndrome

Symptoms: The main signs and symptoms of Peters plus syndrome include the following:[2, 1]

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Causes of Peters plus syndrome

Cause: Peters plus syndrome is genetic. It is caused by mutations in both copies of the B3GLCT gene. While mutations are usually inherited from one or both parents, there is nothing either parent can do before or during a pregnancy ...2

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Diagnosis of Peters plus syndrome

Diagnosis: Genetic testing is available for Peters plus syndrome, including carrier screening for at-risk family members and prenatal diagnosis for pregnancies at increased risk, if the disease-causing mutations in the family are known.[2] To learn more about ...3

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Genetics of Peters plus syndrome

Genetic Changes: Mutations in the B3GLCT gene cause Peters plus syndrome . The B3GLCT gene provides instructions for making an enzyme called beta 3-glucosyltransferase (B3Glc-T), which is involved in the complex process of adding sugar molecules to proteins (glycosylation) ...4

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Treatments: Peters plus syndrome

Treatment: Treatment varies from person to person and is based on the extent of the disease. Once a person has been diagnosed with Peters plus syndrome, the following evaluations are recommended:[2]

  • Eye examination
  • Growth hormone testing
  • Developmental assessment
  • Heart ...
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Names and Terminology

Other Names for This Condition

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ peters-plus-syndrome
  2. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 8422/ peters-plus-syndrome
  3. ibid.
  4. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ peters-plus-syndrome

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