Fraser Syndrome synonyms

Fraser Syndrome is a rare genetic disorder characterized by cryptophthalmos (hidden eyes) and syndactyly (webbing of the fingers or toes), and it is officially classified as Fraser syndrome in medical databases. While historically referred to by several names based on its clinical presentation, Fraser syndrome is the universally accepted terminology in modern clinical practice, replacing older, descriptive labels.

What are the historical synonyms for Fraser syndrome?

In older medical literature, you may encounter several names for Fraser syndrome that describe specific physical findings. These include the Meyer-Schwickerath syndrome (referencing the association of cryptophthalmos and syndactyly) and the Ullrich-Feichtiger syndrome. These historical names have largely fallen out of favor as researchers identified that these presentations were part of the same genetic spectrum now defined as Fraser syndrome.

How is Fraser syndrome classified in medical databases?

Standardized medical classification systems use specific identifiers to ensure consistency for patients and clinicians worldwide. According to the OMIM (Online Mendelian Inheritance in Man) database, Fraser syndrome is identified by the code #219000. It is also cataloged in Orphanet under the identifier ORPHA:337, which helps maintain global diagnostic accuracy for the approximately 17 members of the DiseaseMaps community and others affected by this rare condition.

Why does Fraser syndrome have multiple names?

The variety of names for Fraser syndrome stems from the era before genetic testing, when clinicians named conditions based on the specific constellation of symptoms observed in a single patient or family. As our understanding of the genetic basis—primarily mutations in the FRAS1, FREM2, or GRIP1 genes—has evolved, the medical community consolidated these descriptive terms into the single, formal diagnosis of Fraser syndrome. This shift helps provide clarity and reduces confusion in medical records.

What are the key identifiers for this condition?

• OMIM Number: #219000


• Orphanet ID: ORPHA:337


• Primary Genetic Markers: FRAS1 (approx. 50% of cases), FREM2, and GRIP1


• Inheritance Pattern: Autosomal recessive

Next steps

• Consult a clinical geneticist to confirm the diagnosis through molecular genetic testing.


• Connect with the 17 other families on DiseaseMaps.org to share experiences and coping strategies.


• Register with the NIH Genetic and Rare Diseases Information Center (GARD) for updates on research.

Medical disclaimer: This information is for educational purposes and should not replace professional medical advice, diagnosis, or treatment.

References

• Orphanet: Fraser Syndrome (ORPHA:337)


• NIH GARD: Fraser Syndrome Information Page


• OMIM: Fraser Syndrome (#219000)


• PubMed: Genetic Basis and Clinical Spectrum of Fraser Syndrome