ICD10 code of Wiedemann-Steiner Syndrome and ICD9 code

Wiedemann-Steiner syndrome does not have a unique, dedicated ICD-10 or ICD-9 code, as it is a rare genetic disorder typically classified under broader categories for congenital malformation syndromes. Clinicians generally use the ICD-10 code Q87.89 (Other specified congenital malformation syndromes, not elsewhere classified) to document care for patients with Wiedemann-Steiner syndrome.

Why does Wiedemann-Steiner syndrome lack a specific ICD code?

Because Wiedemann-Steiner syndrome is a rare condition caused by variants in the KMT2A gene, it is frequently grouped under "other" diagnostic codes in the International Classification of Diseases (ICD) system. The lack of a specific code is common for rare diseases, though it can sometimes create challenges for billing and insurance authorization for those living with Wiedemann-Steiner syndrome.

How is a diagnosis of Wiedemann-Steiner syndrome confirmed?

A clinical diagnosis is confirmed through molecular genetic testing, specifically by identifying a pathogenic variant in the KMT2A gene. Because Wiedemann-Steiner syndrome presents with a wide spectrum of clinical features, geneticists rely on exome or genome sequencing to provide a definitive diagnosis, which is often more useful for clinical management than a specific ICD code.

What are the common clinical features?

Individuals with Wiedemann-Steiner syndrome often share specific physical and developmental traits. While every patient is unique, common features include:

• Developmental delay and intellectual disability of varying degrees.


• Distinctive facial features, such as long eyelashes and hypertrichosis cubiti (excessive hair on the elbows).


• Short stature and specific skeletal findings.


• Hypotonia (low muscle tone) and feeding difficulties in infancy.


• Behavioral challenges, including anxiety or features of autism spectrum disorder.

How does the community support those with Wiedemann-Steiner syndrome?

Navigating the diagnostic journey can be isolating, but you are not alone. Currently, 193 people with Wiedemann-Steiner syndrome have joined the DiseaseMaps.org community to share their experiences, provide peer support, and exchange information on managing the complexities of this rare condition.

Next steps

• Consult with a clinical geneticist to discuss KMT2A testing and interpretation.


• Work with your primary physician to use the code Q87.89 to ensure appropriate medical billing and coverage.


• Join the DiseaseMaps.org community to connect with other families affected by Wiedemann-Steiner syndrome.

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

References

• Orphanet: Wiedemann-Steiner syndrome (ORPHA:261248)


• NIH GARD: Wiedemann-Steiner syndrome


• OMIM: KMT2A-related disorder (#605130)


• Wiedemann-Steiner Syndrome Foundation (WSSF)