ICD10 code of Coffin-Lowry syndrome and ICD9 code

The ICD-10-CM code for Coffin-Lowry syndrome is Q87.89, which classifies it under "Other specified congenital malformation syndromes, not elsewhere classified." There is no unique, specific ICD-9-CM code for Coffin-Lowry syndrome, as it was historically captured under the broader category 759.89, representing "Other specified congenital anomalies."

What is the clinical classification of Coffin-Lowry syndrome?

Coffin-Lowry syndrome is a rare genetic disorder characterized by intellectual disability, distinctive facial features, and skeletal abnormalities. Because it is a rare condition, medical coding often relies on "catch-all" codes rather than a disease-specific identifier. Clinicians use the Q87.89 code in the ICD-10 system to ensure that Coffin-Lowry syndrome is documented within the patient’s electronic health record for insurance billing and clinical tracking purposes. Understanding these codes is essential for families navigating the healthcare system, as accurate coding is the first step in obtaining coverage for the multidisciplinary care that individuals with Coffin-Lowry syndrome require.

How does Coffin-Lowry syndrome affect the body?

The clinical presentation of Coffin-Lowry syndrome is highly variable, but it typically involves a combination of neurological and physical findings. The condition is caused by mutations in the RPS6KA3 gene located on the X chromosome. Because of this inheritance pattern, the severity of Coffin-Lowry syndrome can differ significantly between males and females. Key clinical features often include:

• Intellectual disability ranging from mild to profound.


• Distinctive facial features, such as a prominent forehead, down-slanting eyes, and a wide mouth with full lips.


• Skeletal abnormalities, including kyphoscoliosis (curving of the spine) and pectus carinatum (protruding chest).


• Stimulus-induced drop attacks (SIDAs), which are sudden episodes of muscle weakness triggered by unexpected auditory or tactile stimuli.


• Short stature and tapering fingers.

Is Coffin-Lowry syndrome hereditary?

Yes, Coffin-Lowry syndrome is a genetic condition inherited in an X-linked dominant pattern. This means that a mutation in the RPS6KA3 gene on the X chromosome is sufficient to cause the syndrome. In many cases, Coffin-Lowry syndrome occurs as a result of a *de novo* (new) mutation in the affected individual, meaning it was not inherited from either parent. Genetic counseling is highly recommended for families to understand the recurrence risks and the specific genetic implications for siblings and future children.

How can the community support those with Coffin-Lowry syndrome?

Navigating a rare diagnosis can feel isolating, but you are not alone. Currently, 84 people with Coffin-Lowry syndrome have joined the DiseaseMaps.org community to share their experiences, resources, and emotional support. Connecting with others who understand the unique challenges of managing Coffin-Lowry syndrome—such as coordinating physical therapy, speech therapy, and managing stimulus-induced drop attacks—can provide invaluable insights into daily caregiving and long-term planning.

Next steps

• Consult with a clinical geneticist to confirm the diagnosis via molecular genetic testing.


• Coordinate care with a multidisciplinary team, including neurologists, orthopedists, and physical therapists.


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


• Review your insurance documentation to ensure your healthcare providers are using the correct Q87.89 ICD-10 code for billing and prior authorizations.

Medical disclaimer: This content is for informational 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

• NIH Genetic and Rare Diseases (GARD) Information Center: Coffin-Lowry syndrome profile.


• Orphanet: ORPHA195: Coffin-Lowry syndrome.


• OMIM (Online Mendelian Inheritance in Man): #303600: Coffin-Lowry syndrome; CLS.


• ICD-10 Data: Q87.89 - Other specified congenital malformation syndromes.