Living with Acromegaloid facial appearance syndrome
A rare genetic condition with a gradually coarsening face, thick lips, and large, doughy hands.
Understanding Acromegaloid facial appearance syndrome
It features thickened lips and lining of the mouth, and large, doughy hands. Some people have developmental delay. It appears to be part of a spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type, and hypertrichosis-acromegaloid facial appearance syndrome.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Coarse facial appearance
- Full, thick lips
- Large hands
- Bulbous nose
- Wide-set eyes
- Very flexible joints
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 it has a probable autosomal dominant inheritance, so one changed copy of a gene may be enough. It doesn't list a specific gene.
Also known as: acromegaloid facial appearance; afa syndrome; thick lips and oral mucosa
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 Acromegaloid facial appearance syndrome.
Explore research for Acromegaloid facial appearance syndrome
Explore actively recruiting Acromegaloid facial appearance syndrome studies with HealthSpark.
Find actively recruiting studies for Acromegaloid facial appearance syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Acromegaloid facial appearance syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Acromegaloid facial appearance syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Acromegaloid facial appearance syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.