Living with Primrose syndrome
A very rare condition with hardened ear cartilage, a large head, intellectual disability and cataracts, with more signs appearing in adulthood.
Understanding Primrose syndrome
Fewer than a dozen cases have been reported. The most distinctive feature is hardening (calcification) of the outer ear. Other findings include distinctive facial features, a large head and intellectual disability. Autism, behavior differences and brain calcifications have been reported in some people. Diabetes, sparse body hair and muscle wasting appear in adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hardened outer ear cartilage (calcification)
- Intellectual disability
- Cataracts
- Conductive hearing loss
- Large head (macrocephaly)
- Underactive sex glands (hypogonadism)
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.
- 3Consider genetic testing
Changes in ZBTB20 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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 Simons Searchlight and other patient organizations
- 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 ZBTB20 gene cause some cases. It is autosomal dominant, meaning one changed copy of the gene is enough, but most cases have been sporadic, meaning they happen by chance.
Also known as: intellectual disability-cataracts-calcified pinnae-myopathy syndrome; intellectual disability, cataract, calcified pinna, myopathy syndrome
Patient organizations
- Simons SearchlightPrimrose syndrome · United States
- Beyond Primrose: ZBTB20 FoundationPrimrose syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Primrose syndrome.
Explore research for Primrose syndrome
Explore actively recruiting Primrose syndrome studies with HealthSpark.
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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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