Living with Acrofacial dysostosis Rodriguez type
A rare condition present at birth with very small jaw, severe limb differences, and differences in the brain, heart, and lungs.
Understanding Acrofacial dysostosis Rodriguez type
It combines mandibulofacial dysostosis with severe limb reduction. The jaw is very small and the palate may be cleft. Limb differences include underdeveloped shoulders and pelvis, short upper arms, absent forearm bones, and absent thumbs. Other differences can involve the brain, urinary and genital tract, heart, and lungs. GARD lists onset as during pregnancy and as a newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very small lower jaw
- Absent or underdeveloped forearm bones
- Absent fingers or thumbs
- Small ears (microtia)
- Heart differences
- Brain 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 bone and joint specialists, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in SF3B4 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); 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
Changes in the SF3B4 gene are listed. GARD lists autosomal recessive and autosomal dominant inheritance.
Also known as: acrofacial dysostosis syndrome of rodriguez; acrofacial dysostosis, rodríguez type; acrofacial dysostosis, syndrome of rodriguez; rodriguez lethal acrofacial dysostosis 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 Acrofacial dysostosis Rodriguez type.
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