Alström syndrome synonyms

Alström syndrome is a rare genetic multisystem disorder primarily recognized by its official medical name, though it is occasionally referred to in historical literature as Alström-Hallgren syndrome. There are no other widely accepted clinical synonyms, but it is classified under specific codes in medical databases to ensure consistent identification across global healthcare systems.

Why does Alström syndrome have different names in literature?

The naming of Alström syndrome reflects the history of medical discovery. The condition was first described by Swedish physician Carl-Henry Alström in 1959. In some older medical texts or European case studies, it may be referred to as Alström-Hallgren syndrome, honoring the collaborative research efforts of that era. However, modern medical consensus and international nomenclature have streamlined this to Alström syndrome. The confusion sometimes arises because the condition shares clinical features—such as retinal degeneration and obesity—with other ciliopathies like Bardet-Biedl syndrome, leading to historical misidentifications in older patient records.

What are the official classification codes for Alström syndrome?

To assist with insurance, medical record-keeping, and clinical research, Alström syndrome is tracked using standardized international identifiers. Using these codes can help patients and providers locate the most accurate, peer-reviewed data in global databases:

• Orphanet ID: ORPHA65


• OMIM (Online Mendelian Inheritance in Man): #203800


• ICD-10-CM: Q87.89 (Other specified congenital malformation syndromes)


• ICD-11: LD2F.Y (Other specified genetic syndromes)

Which name is preferred by medical professionals today?

Medical professionals, geneticists, and researchers worldwide exclusively use Alström syndrome in clinical practice and scientific literature. The use of the term "syndrome" is intentional, as it describes a constellation of symptoms—including cone-rod dystrophy, sensorineural hearing loss, and childhood-onset obesity—that occur together due to mutations in the ALMS1 gene. Avoiding outdated synonyms or descriptive, non-specific labels is critical for maintaining clear communication between specialists, such as endocrinologists, cardiologists, and ophthalmologists, who manage the complex care of the 45 members of our DiseaseMaps.org community who are living with this condition.

Are there other terms used to describe this condition?

While Alström syndrome is the singular, accepted term, you may occasionally see the abbreviation "ALMS" used in genetic research papers or laboratory reports. This abbreviation refers specifically to the ALMS1 gene responsible for the condition. It is important to distinguish Alström syndrome from other "ciliopathies" or metabolic disorders that may present with similar symptoms. If you encounter a different name in your medical records, it is highly recommended to clarify with your genetic counselor whether a differential diagnosis was considered, as Alström syndrome is a distinct clinical entity with specific inheritance patterns and diagnostic criteria.

Next steps

• Consult with a clinical geneticist to confirm your diagnosis using the official OMIM or Orphanet nomenclature.


• Verify that your medical records use the correct diagnostic codes (ICD-10 or ICD-11) to ensure proper coordination of care among your specialists.


• Join the DiseaseMaps.org community to connect with the 45 other individuals who share your journey and can offer peer-to-peer insights.


• Visit the Alström Syndrome International (ASI) foundation website for the latest clinical trial information and patient resources.

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: Alström syndrome)


• NIH GARD: https://rarediseases.info.nih.gov (Genetic and Rare Diseases Information Center)


• OMIM: https://omim.org/entry/203800


• Alström Syndrome International: https://www.alstrom.org