Peters plus syndrome
- Peters anomaly with short limb dwarfism
- Krause-Kivlin syndrome
- Congenital disorder of glycosylation with developmental anomaly
Your QuestionMy 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.
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Questions on this page
- What is Peters plus syndrome?
- What are the signs and symptoms of Peters plus syndrome?
- What causes Peters plus syndrome?
- Is there anything that I might have done that could have caused or prevented Peters plus syndrome?
- How might Peters plus syndrome be treated?
- Can people with Peters plus syndrome have children?
- How can I find a genetics professional in my area?
- What is the long-term outlook for Peters plus syndrome?
- 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)
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.
- 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.
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.
- Peters plus syndrome. Genetics Home Reference. September 2013; https://ghr.nlm.nih.gov/condition/peters-plus-syndrome.
- Saskia AJ Lesnik Oberstein, MD, PhD, Martine van Belzen, PhD, and Raoul Hennekam, MD, PhD.. Peters Plus Syndrome. GeneReviews. January 23, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1464/.