Living with Peters plus syndrome
An inherited condition with eye differences, short height, cleft lip or palate, and intellectual disability.
Understanding Peters plus syndrome
The main eye problem is Peters anomaly, in which the front of the eye forms abnormally and the cornea is cloudy. This causes blurred vision, and vision loss can worsen over time. All people have short height, which is evident before birth. Many also have a cleft lip with or without cleft palate, and shortened arms, fingers, and toes.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cloudy cornea (Peters anomaly)
- Cataract or glaucoma
- Short height
- Cleft lip or cleft palate
- Delays in development
- Intellectual disability
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in B3GLCT are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Foundation Fighting Blindness may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: Foundation Fighting Blindness
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Foundation Fighting Blindness
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the B3GLCT gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: krause-kivlin syndrome; krause-van schooneveld-kivlin syndrome; peters anomaly with short limb dwarfism; peters anomaly-short limb dwarfism syndrome; peters-plus syndrome
Patient organizations
- Foundation Fighting BlindnessPeters plus syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Peters plus syndrome.
Explore research for Peters plus syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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