ICD10 code of Weaver Syndrome and ICD9 code

Weaver Syndrome does not have a unique, disease-specific code in ICD-9 or ICD-10; instead, it is typically classified under broader categories for overgrowth syndromes or chromosomal anomalies. Clinicians often use ICD-10 code Q87.3 (Congenital malformation syndromes involving overgrowth) to document the clinical presentation of Weaver Syndrome in medical records.

What is the classification of Weaver Syndrome?

Because Weaver Syndrome is a rare genetic condition, it does not currently possess a dedicated, standalone ICD code. The use of Q87.3 in the ICD-10 system allows healthcare providers to categorize the characteristic accelerated skeletal maturation and overgrowth associated with Weaver Syndrome. In the older ICD-9 system, providers frequently utilized 759.89 (Other specified congenital anomalies) to track patients diagnosed with this condition.

What causes Weaver Syndrome?

Weaver Syndrome is primarily caused by pathogenic variants in the EZH2 gene. This gene provides instructions for making a protein that acts as a histone methyltransferase, which is crucial for normal growth and development. Mutations in this gene disrupt epigenetic regulation, leading to the distinct physical features and accelerated bone age that define Weaver Syndrome.

How is Weaver Syndrome diagnosed?

Diagnosis of Weaver Syndrome is typically confirmed through a combination of clinical evaluation and molecular genetic testing. Key diagnostic indicators include:

• Advanced bone age (skeletal maturation significantly beyond chronological age).


• Distinctive craniofacial features (e.g., broad forehead, hypertelorism, micrognathia).


• Macrocephaly and rapid postnatal growth.


• Developmental delay or intellectual disability of varying degrees.


• Molecular confirmation via EZH2 gene sequencing.

Is Weaver Syndrome hereditary?

In the vast majority of documented cases, Weaver Syndrome occurs as a de novo (sporadic) mutation, meaning it is not inherited from parents. While rare instances of autosomal dominant inheritance have been reported, most families with a child diagnosed with Weaver Syndrome do not have a prior family history of the condition.

Next steps

• Consult with a clinical geneticist to discuss molecular testing and family risk assessment.


• Connect with the 6 members currently tracking their journey with Weaver Syndrome on DiseaseMaps.org to share experiences.


• Coordinate care with a multidisciplinary team, including endocrinologists and orthopedists, to monitor growth and skeletal development.

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 regarding a medical condition.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Weaver Syndrome Overview.


• Orphanet: Rare Disease Database (ORPHA:900).


• OMIM (Online Mendelian Inheritance in Man): #277590 (Weaver Syndrome).


• GeneReviews: EZH2-Related Disorders.