Living with Richieri Costa-Pereira syndrome
A rare genetic syndrome with short height, a small lower jaw and cleft, hand and foot differences, and breathing and feeding trouble in infancy.
Understanding Richieri Costa-Pereira syndrome
Features include Robin sequence (a small lower jaw with breathing and feeding trouble), a cleft in the lower jaw, small or missing thumbs, and clubfoot. Ears may be low set and the palate highly arched. It has been described in 14 Brazilian families and in one unrelated French patient. It starts at birth or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Robin sequence
- Cleft lower jaw (cleft mandible)
- Small or missing thumbs
- Clubfoot
- Feeding trouble in infancy
- Breathing trouble in newborns
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 bone and joint specialists, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in EIF4A3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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
It is caused by changes in the EIF4A3 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: richieri costa pereira syndrome; robin sequence with cleft mandible and limb anomalies; robin sequence with cleft mandible and limb anomalies syndrome; short stature-pierre robin sequence-cleft mandible-hand anomalies clubfoot syndrome; short stature-pierre robin syndrome-cleft mandible-hand anomalies clubfoot syndrome; short stature, pierre robin sequence, cleft mandible, hand anomalies, clubfoot 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 Richieri Costa-Pereira syndrome.
Explore research for Richieri Costa-Pereira syndrome
Explore actively recruiting Richieri Costa-Pereira syndrome studies with HealthSpark.
Find actively recruiting studies for Richieri Costa-Pereira 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 Richieri Costa-Pereira 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 Richieri Costa-Pereira 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 Richieri Costa-Pereira 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.