Overview
Intellectual disability-alacrima-achalasia syndrome (also known as IADSA or sometimes referred to in the context of triple A syndrome variants) is an extremely rare genetic condition that affects multiple body systems. The three main features of this syndrome are intellectual disability (difficulty with learning, reasoning, and daily problem-solving), alacrima (the inability to produce tears), and achalasia (a condition where the lower part of the esophagus, the tube that carries food to the stomach, does not relax properly, making swallowing difficult). Children with this condition may show signs early in life, such as dry eyes from birth and feeding difficulties due to food not passing easily into the stomach. The intellectual disability can range from mild to severe and affects how a child develops speech, motor skills, and social abilities. Some patients may also have additional neurological features. Because this syndrome is so rare, treatment is mainly focused on managing each symptom individually. Alacrima is treated with artificial tears to protect the eyes, achalasia may require procedures or surgery to help food pass into the stomach, and intellectual disability is supported through early intervention programs, speech therapy, and special education services. There is currently no cure for this condition, and lifelong management by a team of specialists is typically needed.
Key symptoms:
Intellectual disability or learning difficultiesInability to produce tears (dry eyes from birth)Difficulty swallowing foodVomiting or regurgitation after eatingFailure to thrive or poor weight gain in infancyDelayed speech developmentDelayed motor milestones such as sitting or walkingChronic eye irritation or infections due to dry eyesChoking or gagging during feedingBehavioral difficultiesPoor muscle tone
Clinical phenotype terms (16)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Intellectual disability-alacrima-achalasia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Intellectual disability-alacrima-achalasia 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 Intellectual disability-alacrima-achalasia syndrome.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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.How severe is my child's achalasia, and what treatment options are best for them?,How often should we apply artificial tears, and what brand or type do you recommend?,What developmental therapies should we start, and how often should they occur?,Are there any signs of complications we should watch for at home?,Should other family members be tested for the GMPPA gene mutation?,What is the long-term outlook for my child's learning and independence?,Are there any clinical trials or research studies we could participate in?
Common questions about Intellectual disability-alacrima-achalasia syndrome
What is Intellectual disability-alacrima-achalasia syndrome?
Intellectual disability-alacrima-achalasia syndrome (also known as IADSA or sometimes referred to in the context of triple A syndrome variants) is an extremely rare genetic condition that affects multiple body systems. The three main features of this syndrome are intellectual disability (difficulty with learning, reasoning, and daily problem-solving), alacrima (the inability to produce tears), and achalasia (a condition where the lower part of the esophagus, the tube that carries food to the stomach, does not relax properly, making swallowing difficult). Children with this condition may show s
How is Intellectual disability-alacrima-achalasia syndrome inherited?
Intellectual disability-alacrima-achalasia syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Intellectual disability-alacrima-achalasia syndrome typically begin?
Typical onset of Intellectual disability-alacrima-achalasia syndrome is infantile. Age of onset can vary across affected individuals.