Pom1

POM1 is a specific type of genetic mutation classified within a broader family of genetic disorders. The term itself is an acronym for Parieto-Occipital Microdeletion Syndrome 1. It refers to a rare chromosomal condition caused by a microdeletion, or a very small missing segment of DNA, on the long arm of chromosome 1, specifically at a location designated as 1q44.

This deletion disrupts the normal function of several genes critical for neurological development. As a result, individuals with POM1 typically present with a distinct constellation of symptoms. These commonly include severe developmental delay, intellectual disability, and early-onset epilepsy that can be difficult to manage. Physical features may also be present, such as distinct facial characteristics, abnormalities in brain structure observable on an MRI (like agenesis of the corpus callosum), and microcephaly, which is a smaller-than-average head size.

Diagnosis of POM1 is confirmed through genetic testing, most accurately through a chromosomal microarray analysis, which can detect these very small deletions that standard karyotyping might miss. Because it is a congenital condition, meaning it is present from birth, management focuses on supportive care. This involves a multidisciplinary approach including neurologists for seizure control, physical and occupational therapists to support motor skills, and other specialists to address individual needs. There is currently no cure for the underlying genetic anomaly. Research into POM1 is ongoing to better understand the function of the involved genes and to improve therapeutic interventions for affected individuals.