Living with Pierre Robin syndrome-faciodigital anomaly syndrome
A rare X-linked condition with a small jaw, cleft palate, and finger differences, with normal growth and learning.
Understanding Pierre Robin syndrome-faciodigital anomaly syndrome
It combines Pierre Robin sequence (a small, set-back lower jaw, cleft palate, and a tongue that sits back) with a high forehead and finger differences. These include tapered fingers, curved pinkies, short fingertip bones, and finger-like thumbs. GARD says growth and mental development were normal. Signs are seen in newborns and infants.
Signs & symptoms
GARD doesn't list a symptom list, but the summary describes:
- Small, set-back lower jaw
- Cleft palate
- Tongue that sits far back (glossoptosis)
- High forehead
- Tapered fingers and curved pinkies
- Finger-like thumbs
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 ear, nose, and throat specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial Foundation
- 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 World Craniofacial Foundation 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 genes (also called variants) cause this condition. It is X-linked, which means the gene is on the X chromosome. GARD doesn't list a specific gene.
Also known as: chitayat meunier hodgkinson syndrome; chitayat-meunier-hodgkinson syndrome; pierre robin sequence faciodigital anomaly syndrome; pierre robin sequence with facial and digital anomalies; pierre robin sequence-faciodigital anomaly syndrome
Patient organizations
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Pierre Robin syndrome-faciodigital anomaly syndrome.
Explore research for Pierre Robin syndrome-faciodigital anomaly syndrome
Explore actively recruiting Pierre Robin syndrome-faciodigital anomaly syndrome studies with HealthSpark.
Find actively recruiting studies for Pierre Robin syndrome-faciodigital anomaly 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 Pierre Robin syndrome-faciodigital anomaly 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 Pierre Robin syndrome-faciodigital anomaly 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 Pierre Robin syndrome-faciodigital anomaly 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.