Short answer · Medically reviewed summary · Last updated: 2026-05-08
Wolf-Hirschhorn Syndrome (WHS) is classified under the ICD-10-CM code Q93.51 (Angelman syndrome is also under Q93.5, but Q93.51 is specific to 4p deletion syndrome). In the legacy ICD-9-CM system, Wolf-Hirschhorn Syndrome is represented by the code 758.31. What is the clinical classification of Wolf-Hirschhorn Syndrome? Wolf-Hirschhorn Syndrome is a rare chromosomal disorder caused by a partial deletion of the short arm of chromosome 4 (4p16.3).
ICD10 code of Wolf Hirschhorn Syndrome and ICD9 code
ICD-10 and ICD-9 codes for Wolf Hirschhorn Syndrome, with classification details for clinicians, coders and patients.
Wolf-Hirschhorn Syndrome (WHS) is classified under the ICD-10-CM code Q93.51 (Angelman syndrome is also under Q93.5, but Q93.51 is specific to 4p deletion syndrome). In the legacy ICD-9-CM system, Wolf-Hirschhorn Syndrome is represented by the code 758.31.
What is the clinical classification of Wolf-Hirschhorn Syndrome?
Wolf-Hirschhorn Syndrome is a rare chromosomal disorder caused by a partial deletion of the short arm of chromosome 4 (4p16.3). Because this condition is defined by a specific genetic mechanism, accurate coding is essential for medical records and insurance authorization. Within the DiseaseMaps.org community, 85 people with Wolf-Hirschhorn Syndrome have shared their experiences, highlighting the importance of standardized diagnostic coding for accessing specialized care.
How is Wolf-Hirschhorn Syndrome diagnosed?
Diagnosis of Wolf-Hirschhorn Syndrome typically involves clinical evaluation followed by genetic testing to confirm the 4p deletion. Clinicians utilize the following methods to identify the specific chromosomal breakpoints:
- Chromosomal Microarray (CMA): The gold standard for detecting the submicroscopic deletions characteristic of Wolf-Hirschhorn Syndrome.
- Fluorescence In Situ Hybridization (FISH): Used to visualize the deletion on chromosome 4.
- G-banded Karyotype: May identify larger deletions visible under standard microscopy.
Is Wolf-Hirschhorn Syndrome hereditary?
In approximately 85% to 90% of cases, Wolf-Hirschhorn Syndrome occurs as a de novo (new) event in the affected individual, meaning it is not inherited from the parents. However, in about 10% to 15% of cases, a parent may carry a balanced translocation that leads to the unbalanced deletion in the child. Genetic counseling is highly recommended for families affected by Wolf-Hirschhorn Syndrome to determine the recurrence risk.
Next steps
- Consult with a clinical geneticist to review microarray results and discuss family planning.
- Connect with the 85 members of the DiseaseMaps.org community for peer support and shared resources.
- Register with the 4p- Support Group to access disease-specific educational materials.
- Coordinate care through a multidisciplinary team including neurologists, cardiologists, and speech therapists.
Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment; always seek the advice of your physician with any questions regarding a medical condition.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Wolf-Hirschhorn syndrome
- Orphanet: 4p deletion syndrome (ORPHA:908)
- OMIM (Online Mendelian Inheritance in Man): #194190 (Wolf-Hirschhorn Syndrome)
- 4p- Support Group (4p-supportgroup.org)
