ICD10 code of Alström syndrome and ICD9 code

Alström syndrome is classified under the ICD-10-CM code Q87.89 (Other specified congenital malformation syndromes, not elsewhere classified) and the ICD-9-CM code 759.89 (Other specified congenital anomalies). Because Alström syndrome is a complex multisystem condition, these codes are used for administrative and billing purposes, as there is currently no disease-specific code dedicated solely to this rare genetic disorder.

What is the clinical significance of Alström syndrome?

Alström syndrome is a rare autosomal recessive ciliopathy characterized by progressive multi-organ dysfunction. Individuals living with Alström syndrome typically experience early-onset childhood obesity, insulin resistance, type 2 diabetes, and progressive sensorineural hearing loss. A hallmark feature of Alström syndrome is cone-rod dystrophy, which leads to significant vision loss and often total blindness in early life. Because it is a systemic condition, clinical management requires a multidisciplinary approach involving endocrinologists, ophthalmologists, cardiologists, and audiologists to monitor the diverse range of symptoms.

Is Alström syndrome hereditary?

Yes, Alström syndrome is a genetic disorder caused by mutations in the ALMS1 gene. It follows an autosomal recessive pattern of inheritance, meaning that an affected individual must inherit two copies of the mutated gene—one from each carrier parent. When both parents are carriers, there is a 25% chance with each pregnancy that the child will have Alström syndrome. Genetic counseling is highly recommended for families to understand these risks and to discuss reproductive options or cascade testing for siblings.

How is Alström syndrome diagnosed?

Diagnosis of Alström syndrome is primarily clinical, based on the presence of characteristic symptoms, and is confirmed through molecular genetic testing. Physicians look for a specific cluster of symptoms that often emerge in early childhood. The diagnostic process typically includes:

• Ophthalmological assessment: Evaluation for early-onset cone-rod dystrophy.


• Audiometry: Testing for progressive hearing loss, which is common in Alström syndrome patients.


• Endocrine screening: Monitoring for hyperinsulinemia, obesity, and type 2 diabetes.


• Cardiac evaluation: Screening for dilated cardiomyopathy, which can occur in infancy or later in life.


• Molecular confirmation: Sequencing of the ALMS1 gene to identify pathogenic variants.

What support is available for those with Alström syndrome?

Living with a rare disease can feel isolating, but connecting with others who share the same journey is a vital part of the care process. Currently, 45 people with Alström syndrome have joined the DiseaseMaps.org community to share their experiences, symptom management strategies, and emotional support. Engaging with patient-led organizations provides access to specialized resources and the latest research updates, which are essential for navigating the complexities of Alström syndrome.

Next steps

• Consult with a clinical geneticist to confirm your diagnosis through ALMS1 gene testing.


• Establish a care team consisting of specialists in endocrinology, cardiology, and ophthalmology.


• Join the Alström syndrome community at DiseaseMaps.org to connect with other families and caregivers.


• Review clinical trial registries on ClinicalTrials.gov to stay informed about emerging research and therapeutic developments.

Medical disclaimer: This information is for educational purposes only and does not constitute professional 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: Alström syndrome (ORPHA:77)


• NIH Genetic and Rare Diseases Information Center (GARD): Alström syndrome


• OMIM (Online Mendelian Inheritance in Man): ALSTRÖM SYNDROME; ALMS (#203800)


• Alström Syndrome International (ASI)