Living with Acrofrontofacionasal dysostosis type 2
A very rare condition present at birth with facial and hand differences plus genital and urinary differences.
Understanding Acrofrontofacionasal dysostosis type 2
It combines facial, hand, and foot differences with differences in the genitals and urinary tract. Features can include a broad forehead, bulging eyes, droopy eyelids, extra or webbed fingers, and hypospadias. GARD lists onset as newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Broad forehead
- Bulging eyes
- Droopy upper eyelids (ptosis)
- Extra thumb or webbed fingers
- Hypospadias or epispadias
- Glaucoma
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 genetic specialists and urinary and male reproductive system specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists); Urinary and male reproductive system specialists (urologists)
- 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 type 2; acrofrontofacionasal dysostosis 2; acrofrontofacionasal dysostosis with genitourinary anomalies; acrofrontofacionasal syndrome type 2; affn dysostosis 2; hypertelorism-hypospadias-polysyndactyly 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 type 2.
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