Short answer · Medically reviewed summary · Last updated: 2026-05-08
2q23.1 Microdeletion Syndrome is a rare genetic condition characterized by a deletion of genetic material on the long arm of chromosome 2, specifically at the 2q23.1 locus. It is most commonly referred to by its chromosomal location, though it is sometimes documented in clinical literature as MBD5-associated neurodevelopmental disorder (MAND) due to the involvement of the MBD5 gene. What are the common names and synonyms for 2q23.1 Microdeletion Syndrome? In medical literature, 2q23.1 Microdeletion Syndrome is primarily identified by its cytogenetic location.
2q23.1 Microdeletion Syndrome synonyms
Other names for 2q23.1 Microdeletion Syndrome: synonyms, acronyms and related terms used by doctors and patients.
2q23.1 Microdeletion Syndrome is a rare genetic condition characterized by a deletion of genetic material on the long arm of chromosome 2, specifically at the 2q23.1 locus. It is most commonly referred to by its chromosomal location, though it is sometimes documented in clinical literature as MBD5-associated neurodevelopmental disorder (MAND) due to the involvement of the MBD5 gene.
What are the common names and synonyms for 2q23.1 Microdeletion Syndrome?
In medical literature, 2q23.1 Microdeletion Syndrome is primarily identified by its cytogenetic location. Because medical nomenclature often evolves as researchers identify the specific genes responsible for a condition, you may encounter several terms for the same diagnosis. The most frequent synonyms include:
- MBD5-associated neurodevelopmental disorder (MAND): This is the current preferred term when the MBD5 gene is specifically implicated.
- 2q23.1 deletion syndrome: A common shorthand used in clinical reports.
- Monosomy 2q23.1: A term occasionally used to describe the loss of one copy of the genetic material at this location.
Why are there multiple names for this condition?
The naming of 2q23.1 Microdeletion Syndrome reflects the shift from identifying conditions solely by their physical location on a chromosome to identifying them by the specific gene mutation responsible. Early case reports used the chromosomal location, while more recent research highlights the MBD5 gene. This transition helps clinicians provide more precise genetic counseling to families navigating 2q23.1 Microdeletion Syndrome.
How is the condition classified in medical databases?
Official medical databases use standardized identifiers to ensure consistency. When searching for information on 2q23.1 Microdeletion Syndrome, you may find it indexed under the following:
- Orphanet: Listed under ORPHA:261369.
- OMIM (Online Mendelian Inheritance in Man): Often referenced via the entry for MBD5 (OMIM #611473).
- ICD-10/11: Usually coded under "Chromosomal abnormalities, not elsewhere classified."
Next steps
- Consult with a clinical geneticist to confirm if your specific diagnosis is classified as 2q23.1 Microdeletion Syndrome or MBD5-related.
- Connect with the 4 members of the DiseaseMaps community who share this diagnosis to exchange experiences.
- Request a referral to a multidisciplinary care team, including a neurologist and a developmental pediatrician.
Medical disclaimer: This content is for informational purposes only and does not constitute professional medical advice, diagnosis, or treatment; always seek the advice of your physician with any questions regarding a medical condition.
References
- NIH Genetic and Rare Diseases Information Center (GARD): 2q23.1 microdeletion syndrome.
- Orphanet: Rare disease database entry for 2q23.1 microdeletion.
- OMIM: MBD5 gene and associated neurodevelopmental disorders (#611473).
- PubMed: Clinical studies on the phenotype of 2q23.1 Microdeletion Syndrome.
