Living with Preaxial polydactyly-colobomata-intellectual disability syndrome
A very rare syndrome present from birth with intellectual disability, slow growth, an extra thumb on one side and eye differences called colobomas.
Understanding Preaxial polydactyly-colobomata-intellectual disability syndrome
It includes slow growth and an extra thumb on one hand. Colobomas are gaps in parts of the eye such as the iris, optic nerve head, choroid and retina. There have been no further descriptions in the literature since 1987.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Developmental delay
- Extra thumb (preaxial polydactyly)
- Gaps in the back of the eye (colobomas)
- Vision problems
- Glaucoma (less common)
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 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); 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 but doesn't name a gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: pfeiffer mayer syndrome; pfeiffer-mayer syndrome; preaxial polydactyly, colobomata, intellectual disability syndrome
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 Preaxial polydactyly-colobomata-intellectual disability syndrome.
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