alacrima, achalasia, and intellectual disability syndrome

Alacrima, achalasia, and intellectual disability syndrome is a rare genetic condition. The name of the syndrome highlights key features including alacrima, which is a lack of tear production; achalasia, a condition affecting the esophagus that makes swallowing difficult; and intellectual disability, which can include developmental delays and learning challenges. This condition is associated with changes in the GMPPA gene and is recognized in genetic databases such as OMIM (OMIM:615510) and GARD (GARD:12404). Information about the overall nature and progression of the condition is still limited, and further research is needed to better understand all of its aspects.

People with this condition may experience a lack of tear production (alacrima), difficulties swallowing (achalasia), and intellectual challenges. These features are highlighted in the name of the syndrome, pointing to the main areas affected. However, detailed descriptions of additional symptoms have not been extensively documented in the available sources.

The condition is linked to changes in a gene called GMPPA. This genetic change is thought to underlie the symptoms seen in people with this syndrome. The connection to GMPPA is supported by genetic information in the available sources, including listings in genetic databases.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.