Megalencephaly Capillary Malformation Polymicrogyria Syndrome (mcap) synonyms

Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome (MCAP) is most commonly referred to by its acronym, MCAP, or as Megalencephaly-Capillary Malformation Syndrome. Due to its complex clinical presentation, it was historically categorized under various names before the genetic cause, specifically mutations in the PIK3CA gene, was identified.

What are the historical and alternative names for MCAP?

Before the current, more precise nomenclature was adopted, Megalencephaly Capillary Malformation Polymicrogyria Syndrome was often described by its individual features or grouped with related overgrowth conditions. In older medical literature, you may encounter the following synonyms or related terms:

• M-CM (Megalencephaly-Capillary Malformation)


• MCM syndrome


• Megalencephaly-capillary malformation-polymicrogyria syndrome


• Macrocephaly-capillary malformation syndrome

Why does this condition have multiple names?

The variety of names for Megalencephaly Capillary Malformation Polymicrogyria Syndrome stems from the evolution of clinical diagnosis. Historically, doctors named the condition based on the distinct symptoms observed, such as the large brain size (megalencephaly) and skin vascular findings (capillary malformations). As medical research identified the PIK3CA gene as the underlying cause, the field moved toward the more descriptive MCAP designation. This reclassification helps differentiate it from other overgrowth syndromes, such as CLOVES syndrome, which shares a similar genetic pathway.

What is the official classification for MCAP?

In international medical databases, Megalencephaly Capillary Malformation Polymicrogyria Syndrome is classified using specific identifiers to ensure consistency in research and clinical reporting:

1. OMIM (Online Mendelian Inheritance in Man): #602501


2. Orphanet: ORPHA79124


3. ICD-10/11: Often categorized under codes for congenital malformation syndromes or specific overgrowth disorders.

Which name should patients use?

Medical professionals currently prefer Megalencephaly Capillary Malformation Polymicrogyria Syndrome or the acronym MCAP. Using these terms will yield the most relevant results in current clinical literature and patient resources. Within the DiseaseMaps.org community, 23 people with Megalencephaly Capillary Malformation Polymicrogyria Syndrome have shared their experiences, providing a valuable network for those seeking support under this specific diagnosis.

Next steps

• Consult with a clinical geneticist to confirm your diagnosis via PIK3CA genetic testing.


• Connect with the 23 members of the DiseaseMaps.org community living with MCAP for shared support.


• Request that your medical records use the standardized term Megalencephaly Capillary Malformation Polymicrogyria Syndrome to avoid confusion.

Medical disclaimer: This information is for educational purposes only and does not constitute medical advice; please consult a qualified healthcare professional for diagnosis and treatment.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Megalencephaly-capillary malformation-polymicrogyria syndrome.


• Orphanet: Megalencephaly-capillary malformation-polymicrogyria syndrome (ORPHA79124).


• OMIM: Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome (Entry #602501).