Living with Acrofacial dysostosis, Palagonia type
A rare condition with short height, mild jaw and hand differences, and missing teeth, with normal intelligence.
Understanding Acrofacial dysostosis, Palagonia type
People have normal intelligence and short stature. Mild differences include underdeveloped cheekbones, a small jaw, and webbing and shortening of the fingers. Missing teeth and a patch of missing scalp skin with twisted hair may occur, and some have a cleft lip on one side. GARD notes there have been no further reports in the medical literature since 1997. GARD lists onset as the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Small lower jaw (micrognathia)
- Missing teeth (oligodontia)
- Webbed fingers
- Short fourth hand bone
- Sparse lateral eyebrows
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 doesn't list a specific gene.
Also known as: acrofacial dysostosis palagonia type; acrofacial dysostosis, patagonia type; afd- palagonia type; palagonia form of afd; palagonia type of acrofacial dysostosis
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, Palagonia type.
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