Living with Cryptophthalmos syndrome
A rare genetic syndrome (Fraser syndrome) in which skin covers the eyes, with joined fingers and toes and urinary and genital differences.
Understanding Cryptophthalmos syndrome
Features include eyes that are completely covered by skin and often malformed (cryptophthalmos), skin joining the fingers and toes (cutaneous syndactyly), and differences in the genitals and urinary tract. Other organs can be affected. Eye differences typically cause low vision or vision loss. Severity varies widely.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Eyes covered by skin (cryptophthalmos)
- Joined fingers and toes (syndactyly)
- Small or missing eyeballs
- Genital and urinary tract differences
- Missing or small kidney
- Ear and nose differences
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, digestive system specialists, ear, nose, and throat specialists and eye disease 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); Digestive system specialists (gastroenterologists); Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists)
- 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 Pull-thru Network 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
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 on this page.
Also known as: cryptophthalmos with other malformations; cryptophthalmos-syndactyly syndrome; cryptophthalmos, defect of auricle and genital anomaly; fraser syndrome
Patient organizations
- Pull-thru NetworkCryptophthalmos syndrome · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Cryptophthalmos syndrome.
Explore research for Cryptophthalmos syndrome
Explore actively recruiting Cryptophthalmos syndrome studies with HealthSpark.
Find actively recruiting studies for Cryptophthalmos syndrome with HealthSpark. Share your city to explore research near you.
- 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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