Question 1

What is Peters plus syndrome?

Accepted Answer

Peters plus syndrome is a rare genetic condition characterized by a group of developmental abnormalities. It primarily affects the eyes with features such as Peters anomaly and other anomalies in the front parts of the eye. In addition, many people with this condition may have distinctive facial features, including an upper lip shaped like a cupid's bow and short eye openings (palpebral fissures).

The condition may also be accompanied by abnormalities in the limbs, such as short stature, shortened upper arms (rhizomelia), and short fingers (brachydactyly). Other features can include cleft lip/palate and developmental delay or intellectual disability. Some individuals might also experience problems with the heart, kidneys, or thyroid, although these can vary among people with the condition.

Question 2

What are the symptoms of Peters plus syndrome?

Accepted Answer

People with Peters plus syndrome often show a range of symptoms. Common eye problems include Peters anomaly and other abnormalities of the front parts of the eye. Many also have short limbs, including features such as shortened upper arms and fingers. Distinct facial features like a cupid’s bow upper lip and short eye openings are noted in many cases. Some individuals may also have a cleft lip or palate and varying degrees of developmental delay or intellectual disability. In some cases, heart defects, kidney issues, or problems with the thyroid are also seen.

Question 3

What causes Peters plus syndrome?

Accepted Answer

Peters plus syndrome is caused by changes in genes inherited in an autosomal recessive pattern, which means a child must inherit the altered gene from both parents to develop the condition. A known gene involved in this condition is B3GLCT. This gene change affects multiple organs and systems during development, leading to the range of symptoms seen in this syndrome. Associated genes include B3GLCT.

Question 4

How is Peters plus syndrome inherited?

Accepted Answer

Peters plus syndrome follows an autosomal recessive inheritance pattern. This means a child must inherit a copy of the altered gene from both parents to develop the condition. Parents who each carry one copy typically do not show symptoms.

Question 5

How rare is Peters plus syndrome?

Accepted Answer

Peters plus syndrome is classified as very rare. The estimated prevalence is approximately <1 in 1,000,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

Question 6

How is Peters plus syndrome diagnosed?

Accepted Answer

Information about diagnosis is currently limited for this condition.

Question 7

Are there treatments for Peters plus syndrome?

Accepted Answer

Information about treatment is currently limited for this condition.

Question 8

What complications can arise from Peters plus syndrome?

Accepted Answer

Peters plus syndrome can lead to various complications, especially related to the eyes, such as vision problems from Peters anomaly. Additionally, some individuals may face challenges with their heart, kidneys, or thyroid, which can vary widely among those affected. Developmental delays or intellectual disabilities may also impact daily life, making it important to monitor and manage these issues closely.

Question 9

How does Peters plus syndrome affect daily life for individuals and families?

Accepted Answer

Living with Peters plus syndrome can present unique challenges for individuals and their families. Daily activities may be impacted by vision problems, developmental delays, or physical limitations like short stature and shortened limbs. Families may need to seek special educational support and therapies to help their loved ones reach their full potential.

Question 10

What is the life expectancy for someone with Peters plus syndrome?

Accepted Answer

Currently, there is limited information about the life expectancy of individuals with Peters plus syndrome. The prognosis can vary greatly depending on the severity of symptoms and associated complications, such as heart or kidney issues. Regular medical care and monitoring can help manage these complications and improve quality of life.

Question 11

What specialists should families consult for Peters plus syndrome?

Accepted Answer

Families dealing with Peters plus syndrome should consider consulting a team of specialists to address the various aspects of the condition. This may include pediatricians, ophthalmologists for eye issues, and geneticists for understanding the genetic aspects. Additionally, therapists for developmental support and other specialists may be needed based on individual symptoms.

Kisho

Peters plus syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Clinical Guidance

Explore clinical features

Establishing the Diagnosis

Differential Diagnosis

Treatment of Manifestations

Clinical Guidance

Clinical Trials

Peters plus syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Peters plus syndrome?

What are the symptoms of Peters plus syndrome?

What causes Peters plus syndrome?

How is Peters plus syndrome inherited?

How rare is Peters plus syndrome?

How is Peters plus syndrome diagnosed?

Are there treatments for Peters plus syndrome?

What complications can arise from Peters plus syndrome?

How does Peters plus syndrome affect daily life for individuals and families?

What is the life expectancy for someone with Peters plus syndrome?

What specialists should families consult for Peters plus syndrome?

Clinical Guidance

Explore clinical features

Establishing the Diagnosis

Differential Diagnosis

Treatment of Manifestations

Clinical Guidance

Clinical Trials