Short answer · Medically reviewed summary · Last updated: 2026-05-08
Costello syndrome is classified under the ICD-10-CM code Q87.1 (Congenital malformation syndromes predominantly associated with short stature) and the ICD-9-CM code 759.89 (Other specified congenital anomalies). Because Costello syndrome is a rare multisystem genetic disorder, it does not have a unique, disease-specific code assigned to it alone, which is common for many rare conditions in these classification systems. What is the clinical significance of Costello syndrome? Costello syndrome is a rare RASopathy characterized by failure to thrive in infancy, developmental delays, characteristic facial features, and a predisposition to both benign and malignant tumors.
ICD10 code of Costello Syndrome and ICD9 code
ICD-10 and ICD-9 codes for Costello Syndrome, with classification details for clinicians, coders and patients.
Costello syndrome is classified under the ICD-10-CM code Q87.1 (Congenital malformation syndromes predominantly associated with short stature) and the ICD-9-CM code 759.89 (Other specified congenital anomalies). Because Costello syndrome is a rare multisystem genetic disorder, it does not have a unique, disease-specific code assigned to it alone, which is common for many rare conditions in these classification systems.
What is the clinical significance of Costello syndrome?
Costello syndrome is a rare RASopathy characterized by failure to thrive in infancy, developmental delays, characteristic facial features, and a predisposition to both benign and malignant tumors. Individuals with Costello syndrome require specialized multidisciplinary care, as the condition affects the heart, skin, and neurological development. Our DiseaseMaps.org community currently supports 13 members navigating the complex health journey associated with this diagnosis.
How is Costello syndrome diagnosed?
Diagnosis of Costello syndrome is typically confirmed through molecular genetic testing that identifies a pathogenic variant in the HRAS gene. Clinical suspicion is often raised by distinct physical markers, such as deep palmar creases, curly or sparse hair, and loose skin. Genetic counseling is essential for families to understand the inheritance patterns and risks associated with Costello syndrome.
What are the common health monitoring requirements?
Due to the increased risk of certain tumors and cardiac issues, patients with Costello syndrome require structured surveillance. Key clinical priorities often include:
- Regular echocardiograms to monitor for hypertrophic cardiomyopathy and tachycardia.
- Periodic abdominal ultrasounds to screen for rhabdomyosarcoma and neuroblastoma.
- Ongoing developmental assessments and early intervention services.
- Dermatological evaluations to monitor for papillomas and skin lesions.
Next steps
- Consult with a clinical geneticist or a pediatric cardiologist familiar with Costello syndrome.
- Connect with the 13 members on DiseaseMaps.org to share lived experiences and coping strategies.
- Register with the Costello Syndrome Family Network for updated clinical resources and research opportunities.
Medical disclaimer: This content is for informational purposes only and does not constitute medical advice, diagnosis, or treatment; always seek the guidance of your physician or other qualified health provider with any questions regarding a medical condition.
References
- NIH Genetic and Rare Diseases (GARD) Information Center - Costello syndrome
- Orphanet: Costello syndrome (ORPHA:209)
- OMIM (Online Mendelian Inheritance in Man) - Entry #218040
- Costello Syndrome Family Network (CSFN)
