Living with Rapadilino syndrome
A rare genetic condition with forearm, thumb, and kneecap bone differences, feeding trouble, and slow growth.
Understanding Rapadilino syndrome
Most people have underdeveloped or missing forearm bones and thumbs, and kneecaps may be underdeveloped or missing. Other features include a cleft or high arched palate, a long slender nose, and dislocated joints. Many infants have feeding trouble, diarrhea, and vomiting, which along with bone differences leads to slow growth. The name is an acronym for these features, and intelligence is normal. People have a slightly increased risk of a bone cancer called osteosarcoma and a blood-related cancer called lymphoma.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Missing or underdeveloped forearm bones and thumbs
- Missing or small kneecaps
- Cleft or high arched palate
- Diarrhea and feeding difficulties
- Slow growth and short stature
- Long, slender nose
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 RECQL4 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
This condition is caused by changes in the RECQL4 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: rapadilino - radial ray malformations, patella and palate abnormalities, diarrhea and dislocated joints, limb abnormalities and little size, slender nose and normal intelligence
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 Rapadilino syndrome.
Explore research for Rapadilino syndrome
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