Living with Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
A rare inherited syndrome with small, hidden ears, short finger bones, small toenails, and extra fingertip arch patterns.
Understanding Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
It combines small, partly hidden ears in both ears (cryptomicrotia), short middle and end bones in the second to fifth fingers, small toenails, and extra arch patterns in the fingertip prints. GARD notes there have been no further descriptions in the medical literature since 1988.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small, hidden ears (cryptomicrotia)
- Short end bones of fingers
- Small toenails
- Extra arch patterns in fingerprints
- Wide-set inner eye corners (telecanthus)
- Split scrotum
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 genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- 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 dominant, meaning one changed copy of the gene can be enough to cause it. GARD doesn't name a gene.
Also known as: bilateral cryptomicrotia, brachytelomesophalangy, hypoplastic toe nails, and excess fingertip arch; cryptomicrotia brachydactyly syndrome; cryptomicrotia-brachydactyly syndrome; cryptomicrotia, brachydactyly, excess fingertip arch syndrome; tonoki ohura niikawa syndrome; tonoki-ohura-niikawa 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 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome.
Explore research for Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
Explore actively recruiting Cryptomicrotia-brachydactyly-excess fingertip arch syndrome studies with HealthSpark.
Find actively recruiting studies for Cryptomicrotia-brachydactyly-excess fingertip arch syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Cryptomicrotia-brachydactyly-excess fingertip arch syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Cryptomicrotia-brachydactyly-excess fingertip arch syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.