Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Peters plus syndrome


Other Names for this Disease
  • Peters anomaly with short limb dwarfism
  • Krause-Kivlin syndrome
Related Diseases
  • Congenital disorder of glycosylation with developmental anomaly
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 also common. The severity of symptoms may vary from person to person. It is caused by mutations in the B3GLCT gene and 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: 7/21/2016

What are the signs and symptoms of Peters plus syndrome?

The main signs and symptoms of Peters plus syndrome include the following:[2][1]
  • Eye involvement such as anomalies of the anterior chamber of the eye (Peters anomaly), glaucoma, and  cataract
  • Short stature and shortened limbs
  • Developmental delay and intellectual disability 
  • Characteristic facial features including cleft lip and/or cleft palate, prominent forehead, malformed ears, narrow eyes (short palpebral fissures), and a pronounced double curve of the upper lip (Cupid's bow) 

Other associated findings include congenital heart defects, abnormalities of the kidney, structural brain malformations, congenital hypothyroidism, and  conductive hearing loss.[2][1]

Last updated: 7/22/2016

What causes Peters plus syndrome?

Peters plus syndrome is caused by mutations in the B3GLCT gene. The gene provides instructions for making an enzyme which is involved in the complex process of adding sugar molecules to proteins. This process if called glycosylation. When sugar molecules are added to proteins, proteins can perform a wider variety of functions. Mutations in the B3GLCT gene results in a short and nonfunctional enzyme. It is unclear how this leads to the signs and symptoms of Peters plus syndrome, but impaired glycosylation likely disrupts the function of many proteins, which may contribute to the variety of features.[1]
Last updated: 7/22/2016

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

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 to cause them. 

Should you decide to have a future pregnancy, there are a number of genetic tests that can be used to inform a couple about the possible outcomes of a current or future pregnancy. Examples of two such tests are prenatal diagnosis and/or preimplantation genetic diagnosis (PGD). Prenatal diagnosis can be used to diagnose a condition in a developing fetus. Today, doctors are able to diagnose many more birth defects than they are able to treat before birth. If a fetus has a condition for which prenatal treatment is not possible, prenatal diagnosis may help parents prepare emotionally for the birth and to plan the delivery with their healthcare providers. Parents can also use this information to make decisions regarding whether or not to continue the pregnancy.

PGD represents an alternative to prenatal diagnosis. It is used following in vitro fertilization to diagnose a genetic disease or condition in embryos. Only embryos that do not carry the disease-causing mutation are implanted in the mother's womb. PGD allows testing to occur before a pregnancy begins. 

In many cases, the disease-causing mutation must be identified in an affected relative before PGD or prenatal diagnosis can be performed.[2]
Last updated: 7/22/2016

How might Peters plus syndrome be treated?

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 an ophthalmologist every three months or as indicated is recommended as well as regular developmental assessments. Preservation of vision in the affected eye(s) often requires surgery such as corneal transplantation (penetrating keratoplasty).

Certain medications, such as corticosteroids, should be avoided, as they increase the risk of glaucoma.[2]

Last updated: 7/22/2016

Can people with Peters plus syndrome have children?

Although we were not able to find any cases of individuals with Peters plus syndrome having children, we did not find reports of issues with the development of the reproductive system that might lead to infertility in the medical literature. 

Since Peters plus syndrome is inherited in an autosomal recessive fashion, the children of an individual with Peters plus syndrome are obligate carriers. Whether they are additionally at risk for Peters plus syndrome depends on the carrier status of the partner. Consultation with a genetics professional prior to pregnancy (preconception) can be helpful to determine reproductive risks. 
Last updated: 7/22/2016

How can I find a genetics professional in my area?

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
Last updated: 7/15/2016

What is the long-term outlook for Peters plus syndrome?

The signs and symptoms of Peters plus syndrome vary greatly from person to person, as does the severity of the disease. There may be an increased risk for miscarriage and stillbirth among mothers of affected children. Additionally, some babies may not survive past infancy due to heart failure or other undetermined causes. However, 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.[2]
Last updated: 7/22/2016

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