Living with Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
A rare genetic syndrome with a small lower jaw, mild learning challenges, behavior differences, and frequent infections.
Understanding Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
People have mild global developmental delay, intellectual disability or learning difficulties, and behavior concerns such as autistic, hyperactive, or aggressive behavior. Facial features and finger shape differ from person to person, and recurrent infections and skeletal differences are possible. Signs are seen in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small lower jaw (micrognathia)
- Mild intellectual disability
- Delays in reaching developmental milestones
- Autistic or other behavior differences
- Recurrent infections
- Feeding difficulties in infancy
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 brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in TRIO 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
- 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 Simons Searchlight and other patient organizations
- 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
This condition is caused by changes in the TRIO gene. It is autosomal dominant, which means a changed copy of the gene from one parent can be enough to cause it.
Also known as: autosomal dominant intellectual disability 44; intellectual developmental disorder, autosomal dominant 44, with microcephaly; mebas; mercer-ba syndrome; mrd44; trio-related intellectual disability
Patient organizations
- Simons SearchlightMicrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome · United States
- Team TRIOMicrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome.
Explore research for Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
Explore actively recruiting Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome studies with HealthSpark.
Find actively recruiting studies for Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability 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 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability 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 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability 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 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability 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.