ICD10 code of Treacher Collins syndrome and ICD9 code

The ICD-10 code for Treacher Collins syndrome is Q87.0, which classifies it under congenital malformation syndromes affecting predominantly the face. In the older ICD-9-CM classification system, Treacher Collins syndrome is coded as 756.0, representing anomalies of the skull and face bones.

What is the clinical classification of Treacher Collins syndrome?

Treacher Collins syndrome (TCS) is a rare genetic disorder characterized by distinctive craniofacial abnormalities, often involving the eyes, ears, cheekbones, and jaw. Clinically, it is categorized as a mandibulofacial dysostosis. Because Treacher Collins syndrome presents with such a broad spectrum of severity—ranging from nearly undetectable physical features to life-threatening airway obstruction—precise coding is essential for medical billing and clinical tracking. In the ICD-10-CM system, the code Q87.0 (Congenital malformation syndromes predominantly associated with short stature) is the primary designation used to identify patients living with Treacher Collins syndrome.

How is the diagnosis of Treacher Collins syndrome confirmed?

Diagnosis is primarily based on clinical evaluation by a craniofacial team, often supported by genetic testing. Treacher Collins syndrome is most commonly caused by mutations in the TCOF1 gene, though mutations in POLR1C and POLR1D are also known causes. Genetic counselors play a vital role in identifying these variants, which occur in approximately 90% to 95% of individuals diagnosed with the condition. When seeking care, patients often utilize the ICD-10 code Q87.0 to ensure that their specialized multidisciplinary care—which may include plastic surgery, otolaryngology, and orthodontics—is correctly documented and covered by healthcare providers.

What are the common features associated with Treacher Collins syndrome?

While the physical presentation of Treacher Collins syndrome varies significantly between individuals, several hallmark features are frequently observed. Understanding these features helps the community at DiseaseMaps.org, where 78 members have shared their personal experiences, provide support and resources for newly diagnosed families. Common clinical features include:

• Downward-slanting eyes: Often accompanied by colobomas (notches) of the lower eyelids.


• Hypoplasia: Underdevelopment of the zygomatic (cheek) bones and the mandible (jaw).


• Ear anomalies: Small or malformed external ears (microtia) and conductive hearing loss due to middle ear structure abnormalities.


• Airway complications: A narrow airway caused by jaw underdevelopment, which may require specialized respiratory support.


• Dental issues: Including tooth misalignment and a high-arched or cleft palate.

Is Treacher Collins syndrome hereditary?

Treacher Collins syndrome can be inherited in an autosomal dominant pattern (involving TCOF1 or POLR1D) or an autosomal recessive pattern (involving POLR1C or POLR1D). In many cases, an individual with Treacher Collins syndrome is the first in their family to have the condition, resulting from a *de novo* (new) mutation. Because inheritance patterns vary, a clinical geneticist is the best professional to discuss family planning and the probability of recurrence for siblings or future generations.

Next steps

• Consult with a board-certified clinical geneticist to confirm the specific genetic mutation related to your Treacher Collins syndrome diagnosis.


• Connect with the 78 members of the DiseaseMaps.org community to share experiences and find peer support.


• Schedule a multidisciplinary evaluation with a craniofacial center of excellence to address speech, hearing, and airway management.


• Reach out to organizations like the Children's Craniofacial Association for condition-specific resources and advocacy.

Medical disclaimer: This information is for educational purposes only and should not replace professional 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 Information Center (GARD): Treacher Collins syndrome profile.


• Orphanet: Rare Disease Database (ORPHA: 844).


• OMIM (Online Mendelian Inheritance in Man): Entry #154500 (Treacher Collins Syndrome 1).


• World Health Organization: ICD-10 Version 2019 (Q87.0).