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Genetic and Rare Diseases Information Center (GARD)

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Peters plus syndrome


Other Names for this Disease

  • Krause-Kivlin syndrome
  • Peters anomaly with short limb dwarfism
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My daughter has Peters plus syndrome since birth. She has had multiple surgeries for glaucoma. It is very difficult to find information on her condition as well as finding out more information that will benefit her future. Can you tell me if she will be able to have children? Will she have a normal life span? I had another child with Peters plus syndrome who passed away at birth. I never found out why this happened to my children. What did I do wrong? Or did I? Please help me find these answers.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Peters plus syndrome?

Peters plus syndrome is a genetic condition characterized by abnormalities of the front part of the eye called the anterior chamber, short stature, cleft lip with or without cleft palate, and distinctive facial features.  The most common eye abnormality is Peters anomaly which involves the thinning and clouding of the cornea and attachment of the iris to the cornea causing blurred vision. Other eye abnormalities such as glaucoma and cataracts are common. The severity of symptoms may vary from person to person. The only gene that has been associated with Peters plus syndrome is B3GALTL. The syndrome is inherited in an autosomal recessive fashion.[1] Treatment varies based on the severity of the symptoms; however, regular appointments with an ophthalmologist and avoidance of agents that increase the risk of glaucoma (e.g., corticosteroids) is recommended.[2]
Last updated: 8/10/2009

What are the signs and symptoms of Peters plus syndrome?

No formal diagnostic criteria have not been established for Peters plus syndrome. A clinical diagnosis is based on the presence of features. The following findings may be seen in individuals with Peters plus syndrome [2]:

  • Eye involvement: anomalies of the anterior chamber of the eye (e.g. Peters' anomaly); glaucoma; cataract
  • Short stature
  • Developmental delay
  • Characteristic facial features (e.g. cleft lip and plate)
  • Other associated findings (e.g congenital heart defects; anomalies of the kidney; structural brain malformations; congenital hypothyroidismconductive hearing loss
Last updated: 8/10/2009

What treatment is available for Peters plus syndrome?

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 examination
  • Kidney examination
  • Head examination
  • Thyroid testing
  • Hearing assessment

Assessment by a ophthalmologist every three months or as indicated is recommended as well as regular developmental assessments.[2]

Agents, like corticosteroids, should be avoided, as they increase the risk of glaucoma.[2]

Last updated: 8/10/2009

Can people with Peters plus syndrome have children?

Yes. Individuals who have Peters plus syndrome can have children. Since the syndrome is inherited in an autosomal recessive fashion, which means that an individual needs to inherit two mutated (changed) copies of the gene that causes Peters plus syndrome, the B3GALTL gene, to have the condition, the children of an individual with Peters plus syndrome can only inherit a mutated copy of the B3GALTL gene from the affected parent and are called carriers.  
Last updated: 8/10/2009

Does Peters plus syndrome affect a person's lifespan?

The signs and symptoms of Peters plus syndrome vary greatly from person to person as does the severity of the disease. Therefore, the lifespan of some individuals with Peters plus syndrome is normal. A health care provider may be able to comment on the extent of the disease of an affected individual and discuss which signs and symptoms in the patient might impact lifespan, if any.
Last updated: 8/10/2009

What causes Peters plus syndrome?

Peters plus syndrome is caused by mutations in a gene called B3GALTL; therefore, the syndrome is genetic. The gene provides instructions for making an enzyme which is involved in the complex process of adding sugar molecules to proteins. When sugar molecules are added to proteins, proteins can perform a wider variety of functions. Mutations in the B3GALTL gene disrupts the process and leads to the signs and symptoms of Peters plus syndrome.[1]
Last updated: 8/10/2009

Is there anything that I might have done that could have caused or prevented Peters plus syndrome?

No. Peters plus syndrome is genetic; therefore, there is nothing you or your partner could have done to cause or to prevent the syndrome.
Last updated: 8/10/2009

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 6/5/2014

References
Other Names for this Disease
  • Krause-Kivlin syndrome
  • Peters anomaly with short limb dwarfism
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.