Living with Acrofrontofacionasal dysostosis
A rare condition present at birth with differences in the face, hands, and feet, and severe intellectual disability.
Understanding Acrofrontofacionasal dysostosis
Facial differences include a broad forehead, droopy eyelids, cleft palate, and a cleft in the upper lip. Hands may have broad thumbs and absent nails. Some people have genital and urinary tract differences. GARD lists onset as newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe intellectual disability
- Cleft palate
- Cleft upper lip
- Droopy upper eyelids (ptosis)
- Broad thumb
- Absent nails
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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 (also called variants) cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: acro-fronto-facio-nasal dysostosis; acrofrontofacionasal dysostosis syndrome; affn dysostosis; richieri costa colletto syndrome; richieri-costa-colletto 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 Acrofrontofacionasal dysostosis.
Explore research for Acrofrontofacionasal dysostosis
Explore actively recruiting Acrofrontofacionasal dysostosis studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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