Larsen syndrome synonyms

Larsen syndrome is a rare congenital disorder primarily characterized by multiple joint dislocations, craniofacial abnormalities, and skeletal malformations. While it is most commonly referred to by this name, it may also be identified in older or specialized literature as congenital dislocation of knees and hips with multiple dislocations, or by its OMIM identifier #150250.

What are the common synonyms and historical names for Larsen syndrome?

Medical literature occasionally uses different terminology to describe Larsen syndrome, which can sometimes cause confusion for families navigating medical records. Historically, the condition was described based on its most prominent clinical features. You may encounter the following terms in older clinical texts or international research papers:

• Congenital dislocation of knees and hips with multiple dislocations


• Larsen-type syndrome


• Larsen syndrome type 1 (often used to distinguish it from related disorders)


• Multiple dislocation syndrome

In various international medical traditions, the condition has been indexed under descriptive headings that focus on the orthopedic presentations. However, in modern clinical practice, Larsen syndrome is the universally accepted term used by geneticists and orthopedic surgeons to ensure consistency in diagnosis and research.

Why does Larsen syndrome have multiple names?

The variation in terminology for Larsen syndrome is largely due to the evolution of medical classification systems. Before the underlying genetic causes—specifically mutations in the FLNB gene—were identified, the condition was defined purely by its physical presentation. As medical science transitioned from identifying "syndromes" based on visible symptoms to identifying them by their genetic etiology, many descriptive names were phased out in favor of the eponymous Larsen syndrome. This move toward a standard name helps clinicians aggregate data, which is vital for the 58 individuals currently connected through the DiseaseMaps.org community.

How is the condition classified in official medical databases?

Standardized databases use specific codes to ensure that Larsen syndrome is accurately identified across different healthcare systems. These official classifications are the most reliable way to search for the condition in medical libraries:

• OMIM (Online Mendelian Inheritance in Man): #150250 (Autosomal dominant)


• Orphanet: ORPHA488


• ICD-10: Q74.8 (Other specified congenital malformations of limb(s))


• ICD-11: LD28.0 (Larsen syndrome)

Which name is preferred by medical professionals today?

Today, Larsen syndrome is the preferred clinical term. Using this specific name facilitates clearer communication between primary care physicians, orthopedic specialists, and genetic counselors. When reviewing medical records or searching for the latest research on platforms like PubMed, using "Larsen syndrome" will yield the most accurate and current clinical findings regarding the management of joint instability and respiratory complications associated with the condition.

Next steps

• Consult with a clinical geneticist to confirm the diagnosis via FLNB gene sequencing.


• Connect with the 58 other members on DiseaseMaps.org to share experiences regarding orthopedic management and physical therapy.


• Request a referral to a pediatric orthopedist familiar with managing congenital joint dislocations.


• Visit the NIH GARD website to stay updated on current clinical trials or research initiatives.

Medical disclaimer: This content is for informational purposes only and does not constitute medical advice, diagnosis, or treatment; always seek the advice of your physician or other qualified health provider with any questions regarding a medical condition.

References

• Orphanet: Larsen syndrome (ORPHA488) - orpha.net


• NIH GARD (Genetic and Rare Diseases Information Center): Larsen syndrome - rarediseases.info.nih.gov


• OMIM: LARSEN SYNDROME; LRSN (#150250) - omim.org