Overview
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome is a very rare genetic condition that affects multiple parts of the body. The name describes its main features: a small or underdeveloped jaw (called micrognathia), a tendency to get infections more often than usual, changes in behavior, and mild difficulties with learning and thinking. This condition is sometimes referred to by its Orphanet code ORPHA:476126, and it falls under the broader category of rare syndromes with multiple birth differences. The syndrome appears to be caused by changes (variants) in a specific gene, and most cases are identified in childhood when the physical features and developmental differences become more noticeable. The small jaw can sometimes cause breathing and feeding difficulties, especially in newborns and infants. Repeated infections may affect the ears, lungs, or other parts of the body, and these can be tiring and disruptive to daily life. There is currently no cure for this condition. Treatment focuses on managing each symptom as it appears. This may include speech therapy, special education support, help from an immunologist for infections, and possible jaw or dental surgery. A team of different specialists usually works together to give the best care. Early diagnosis and support can make a meaningful difference in quality of life.
Key symptoms:
Small or underdeveloped jaw (micrognathia)Frequent or repeated infections, such as ear infections or respiratory infectionsBehavioral differences, such as hyperactivity, anxiety, or difficulty with social interactionsMild intellectual disability or learning difficultiesFeeding problems in infancyBreathing difficulties, especially in newbornsDelayed speech and language developmentDental problems related to jaw shapePossible immune system weakness leading to more infections
Clinical phenotype terms (50)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome.
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Specialists
View all specialists →No specialists are currently listed for Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which gene is responsible for my child's condition, and what does the genetic test result mean for our family?,Should other family members be tested for this condition?,What specialists should be part of my child's care team, and how often should we see each one?,What signs of infection should prompt an emergency visit versus a regular doctor's appointment?,Are there any clinical trials or research studies we could participate in?,What educational and behavioral support services should we ask for at school?,Will my child need jaw surgery, and if so, when is the right time to consider it?
Common questions about Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
What is Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome?
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome is a very rare genetic condition that affects multiple parts of the body. The name describes its main features: a small or underdeveloped jaw (called micrognathia), a tendency to get infections more often than usual, changes in behavior, and mild difficulties with learning and thinking. This condition is sometimes referred to by its Orphanet code ORPHA:476126, and it falls under the broader category of rare syndromes with multiple birth differences. The syndrome appears to be caused by changes (va
How is Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome inherited?
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome typically begin?
Typical onset of Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome is neonatal. Age of onset can vary across affected individuals.