Overview
Anterior maxillary protrusion-strabismus-intellectual disability syndrome is a very rare genetic condition that affects several parts of the body at once. The name describes three of its main features: the upper jaw (maxilla) sticks out more than usual, the eyes do not point in the same direction (strabismus, also called crossed eyes or a squint), and there is some degree of intellectual disability, meaning learning and thinking skills develop more slowly than usual. This syndrome is sometimes referred to by its Orphanet code ORPHA:562559. It appears to be present from birth or early childhood, and the features become noticeable as a child grows. The protruding upper jaw can affect how the teeth fit together and how a person looks. The eye misalignment can cause vision problems if not treated early. Intellectual disability can range from mild to moderate and affects how a person learns, communicates, and manages daily tasks. There is currently no cure for this syndrome. Care focuses on managing each symptom separately. This may include orthodontic or dental treatment for the jaw, eye patching or surgery for strabismus, and educational support and therapy for intellectual disability. A team of specialists working together gives the best results for people living with this condition.
Also known as:
Key symptoms:
Upper jaw sticks out noticeably (anterior maxillary protrusion)Eyes that do not line up or point in different directions (strabismus)Intellectual disability — slower development of thinking and learning skillsDelayed speech and language developmentDifficulty with reading, writing, and schoolworkUnusual facial featuresProblems with how the upper and lower teeth fit together (malocclusion)Possible behavioral challenges
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Anterior maxillary protrusion-strabismus-intellectual disability syndrome.
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Specialists
View all specialists →No specialists are currently listed for Anterior maxillary protrusion-strabismus-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 Anterior maxillary protrusion-strabismus-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.Has a specific gene been identified as the cause in our family, and should we have genetic testing?,What specialists should be part of our care team, and how often should we see each one?,What early intervention services are available, and how do we access them?,What are the options for treating the eye misalignment, and when should treatment start?,Will our child need jaw surgery, and if so, at what age is it usually done?,Are there any clinical trials or research studies we could participate in?,What support is available for school and long-term independence planning?
Common questions about Anterior maxillary protrusion-strabismus-intellectual disability syndrome
What is Anterior maxillary protrusion-strabismus-intellectual disability syndrome?
Anterior maxillary protrusion-strabismus-intellectual disability syndrome is a very rare genetic condition that affects several parts of the body at once. The name describes three of its main features: the upper jaw (maxilla) sticks out more than usual, the eyes do not point in the same direction (strabismus, also called crossed eyes or a squint), and there is some degree of intellectual disability, meaning learning and thinking skills develop more slowly than usual. This syndrome is sometimes referred to by its Orphanet code ORPHA:562559. It appears to be present from birth or early childhoo
How is Anterior maxillary protrusion-strabismus-intellectual disability syndrome inherited?
Anterior maxillary protrusion-strabismus-intellectual disability syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Anterior maxillary protrusion-strabismus-intellectual disability syndrome typically begin?
Typical onset of Anterior maxillary protrusion-strabismus-intellectual disability syndrome is childhood. Age of onset can vary across affected individuals.