Floating-Harbor syndrome synonyms

Floating-Harbor syndrome is a rare genetic disorder primarily characterized by short stature, delayed bone age, and specific facial features, and it is most commonly known by this eponymous name. While it has occasionally been referred to as Pelletier-Leisti syndrome in historical medical literature, Floating-Harbor syndrome is the universally accepted clinical term used in modern medical databases and international classification systems.

Why does Floating-Harbor syndrome have different names?

The naming of Floating-Harbor syndrome reflects the history of medical discovery. The condition was first described in 1973 by Drs. R.M. Pelletier and J.T. Leisti, and for a period, it was referred to as Pelletier-Leisti syndrome. However, the name Floating-Harbor syndrome was later adopted to honor the two hospitals where the initial cases were identified: Floating Hospital for Children in Boston and Harbor General Hospital in Los Angeles. In rare disease research, eponymous names based on discovery locations or original authors are common, but the move toward standardizing Floating-Harbor syndrome ensures that clinicians and researchers globally use consistent terminology to avoid confusion in patient records and literature searches.

What are the official classifications for Floating-Harbor syndrome?

In formal medical classification systems, Floating-Harbor syndrome is recognized through specific identifiers that help ensure accurate tracking and research. These codes are essential for clinicians when coding for billing, research, or patient registry purposes:

• OMIM (Online Mendelian Inheritance in Man): #136140


• Orphanet: ORPHA1867


• ICD-10/11: While a specific code for Floating-Harbor syndrome may not exist in older versions, it is generally classified under "Other specified congenital malformation syndromes" (ICD-10 Q87.89).

Is Floating-Harbor syndrome known by any other terms?

While Floating-Harbor syndrome is the standard, you may encounter a few variations or older descriptors in medical archives. It is important to note that these are not distinct conditions, but rather historical synonyms for the same clinical presentation:

1. Pelletier-Leisti syndrome (the original eponym).


2. Short stature with delayed bone age and characteristic facies (a descriptive term often used in clinical reports).


3. FHS (the standard medical abbreviation for Floating-Harbor syndrome).

Which name should patients and caregivers use?

For all medical communication, clinical documentation, and patient advocacy, Floating-Harbor syndrome is the preferred and widely recognized term. Using this name ensures that your healthcare providers can access the most current research, clinical trials, and support communities, such as the 11 individuals currently connected through DiseaseMaps.org. When discussing the condition with specialists or insurance providers, using the official name and the OMIM identifier (#136140) can help prevent administrative delays and ensure that your medical team is referencing the correct genetic profile associated with the SRCAP gene mutation.

Next steps

• Consult a clinical geneticist to confirm the diagnosis through SRCAP gene mutation testing.


• Use the term "Floating-Harbor syndrome" when searching databases like PubMed or NIH GARD to ensure you retrieve the most relevant, peer-reviewed clinical updates.


• Join the DiseaseMaps.org community to connect with other families and share experiences regarding management and care.


• Request that your primary physician includes the OMIM ID #136140 in your digital health records for clarity.

Medical disclaimer: This information is for educational purposes only and should not replace professional medical advice, diagnosis, or treatment from a qualified healthcare provider.

References

• Orphanet: https://www.orpha.net (Search: Floating-Harbor syndrome)


• NIH GARD (Genetic and Rare Diseases Information Center): https://rarediseases.info.nih.gov/diseases/6410/floating-harbor-syndrome


• OMIM (Online Mendelian Inheritance in Man): https://omim.org/entry/136140


• PubMed (National Library of Medicine): https://pubmed.ncbi.nlm.nih.gov/ (Search: Floating-Harbor syndrome clinical review)