Living with Cortical blindness-intellectual disability-polydactyly syndrome
A rare genetic condition with blindness from birth, intellectual disability, and extra fingers or toes.
Understanding Cortical blindness-intellectual disability-polydactyly syndrome
People are born completely blind because of how the brain processes sight, and may have trouble learning. They have extra fingers and toes and may be smaller than others their age. Muscles can be stiff and overactive. Repeated infections can cause breathing and digestion trouble. Facial features can include a big forehead, short nose, and small chin.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Blindness from birth (cerebral visual impairment)
- Intellectual disability
- Extra fingers (polydactyly)
- Stiff muscles (hypertonia)
- Short stature
- Repeated respiratory infections
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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
GARD says changes in genes cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent. GARD doesn't name a gene.
Also known as: cortical blindness, retardation, and postaxial polydactyly
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Cortical blindness-intellectual disability-polydactyly syndrome.
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