Living with Acromelic frontonasal dysostosis
A rare condition present at birth with facial, brain, and limb differences and intellectual disability.
Understanding Acromelic frontonasal dysostosis
Facial features include wide-set eyes, a split nasal tip, nasal clefting, a short, broad head, and a cleft in the middle of the face. Brain differences include a missing corpus callosum. Limbs may have shin bone differences, clubfoot, and extra great toes. People have intellectual disability. 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:
- Global developmental delay
- Intellectual disability
- Missing corpus callosum in the brain
- Cleft in the middle of the face or nose
- Clubfoot
- Extra toes (polydactyly)
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 ZSWIM6 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 ZSWIM6 gene cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: acromelic frontonasal dysplasia; afnd; toriello 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 Acromelic frontonasal dysostosis.
Explore research for Acromelic frontonasal dysostosis
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