Living with Aglossia-adactyly syndrome
A rare condition present at birth that affects the face and limbs, with a small tongue, small jaw, and missing fingers or toes.
Understanding Aglossia-adactyly syndrome
People are often born with a short, incompletely formed tongue, missing or partly missing fingers or toes, differences in the arms or legs, and a very small jaw. How much each person is affected varies a lot. Children often have some, but not all, of these features.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small or underdeveloped tongue
- Small or missing fingers
- Fused fingers (syndactyly)
- Cleft palate
- Underdeveloped cheekbones
- Fewer teeth than usual (hypodontia)
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, ear, nose, and throat 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); Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); 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 FACES: The National Craniofacial Association
- 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 the cause is not fully understood. It lists autosomal dominant inheritance, so a changed copy of a gene from one parent can be enough.
Also known as: aglossia-adactylia syndrome; hanhart syndrome; hypoglossia-hypodactylia; hypoglossia-hypodactyly syndrome; jussieu syndrome; peromelia with micrognathism
Patient organizations
- FACES: The National Craniofacial AssociationAglossia-adactyly syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Aglossia-adactyly syndrome.
Explore research for Aglossia-adactyly syndrome
Explore actively recruiting Aglossia-adactyly syndrome studies with HealthSpark.
Find actively recruiting studies for Aglossia-adactyly 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 Aglossia-adactyly 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 Aglossia-adactyly 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 Aglossia-adactyly 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.