Craniosynostosis, a complex craniofacial condition, impacts approximately one in every 2,500 babies in the United States. This article delves into the complexity of this congenital disability, shedding light on its various forms, categorized broadly by either an unknown cause or an underlying condition. Moreover, we explore ICD-10-CM coding for these diagnoses, including the recent updates as of October 1 of this year, designed to reflect the diverse types of craniosynostosis.

See Figure 1, which represents the normal skull of a newborn, showing the major cranial sutures, including the metopic, coronal, sagittal, and lambdoid sutures. 

Craniosynostosis is a congenital skull malformation resulting from the premature fusion of one or more cranial sutures, the fibrous joints that connect the bones of an infant's skull. These sutures allow the skull to expand as the brain grows. Premature fusion of one or more of these sutures can lead to an irregular head shape and potential complications.

Commonly referred to as "craniostenosis" or "synostosis," the term "craniosynostosis" can be dissected to unveil its meaning: "cranio-" pertains to the cranium or skull, while "synostosis" signifies the fusion of two or more bones.

Symptoms of Craniosynostosis

The primary symptom of craniosynostosis is an atypical head shape known as plagiocephaly, which may become evident shortly after birth or become more pronounced as the child grows. For instance, one side of the face may exhibit noticeable asymmetry compared to the other.

Additional indicators may include a full or bulging fontanelle (the soft spot on the top of the head), prominent scalp veins, heightened irritability, a high-pitched cry, feeding difficulties, recurrent vomiting, an expanding head circumference, and developmental delays.

The precise cause of craniosynostosis can vary and may result from a combination of genetic and environmental factors. In some cases, craniosynostosis is linked to specific genetic syndromes, while in others, it may occur spontaneously without an apparent underlying cause.

Factors that can increase the chance of an infant developing craniosynostosis include maternal thyroid disease or using certain medications like clomiphene citrate (a fertility drug) shortly before or during pregnancy.

Typically, craniosynostosis is assessed through physical examination by palpating the skull for suture ridges and soft areas. It also involves evaluating neck alignment and facial irregularities. However, a radiological assessment is often necessary to confirm the diagnosis, assess the extent of the deformity, and determine the most appropriate course of surgical treatment. While a standard X-ray can reveal the deformity, computerized tomography (CT or CAT scans) offers more detailed insights into the fused sutures and the condition of the underlying brain. Furthermore, three-dimensional (3-D) CT scans can furnish additional details to guide corrective surgical measures.

Craniosynostosis can be categorized as nonsyndromic, developing independently without other related abnormalities, or syndromic, originating from an underlying genetic condition. The various types of craniosynostosis are based on the number of fused bones, which influence the shape of the child's head. These types encompass single-suture synostosis (primary), double-suture synostosis, and complex multi-suture synostosis. 

Craniosynostosis can also be associated with an underlying genetic condition. Common syndromes linked to craniosynostosis include Crouzon, Apert, Carpenter, Pfeiffer, and Saethre-Chotzen. 

Effective treatment options for craniosynostosis primarily involve surgical intervention to rectify the fused sutures, allowing for normal brain and skull growth. Surgical procedures such as cranial vault remodeling or endoscopic craniectomy can alleviate pressure within the head and correct facial and skull bone deformities.

Craniosynostosis that goes untreated may lead to persistent deformities of the head and face, which can impact a child's self-esteem and social interactions. Additionally, untreated craniosynostosis, especially those linked to an underlying syndrome, can cause increased cranial pressure and potentially lead to developmental delays, cognitive impairment, blindness, seizures, and headaches.

The ICD-10-CM codes for craniosynostosis and associated syndromes can be found in Chapter 17: Congenital Malformations, Deformations, and Chromosomal Abnormalities (Q00-Q99). 

Before October 1, 2023, craniosynostosis was reported with code Q75.0. However, this changed with the FY 2024 updates, which introduced a more detailed coding system. For instance, code Q75.0 evolved into category Q75.0, and several new codes were introduced based on the specific type of craniosynostosis. 

 

ICD-10-CM codes for craniosynostosis syndromes remain consistent with FY 2023.

  

As mentioned earlier, Apert syndrome, Carpenter syndrome, and Pfeiffer syndrome are also known as acrocephalosyndactyly. 

An instructional note at Q87 indicates an additional code (or codes) should be used to identify all associated manifestations. 

  

All codes from Chapter 17 must be used on the baby's records, not the maternal records.

In summary, craniosynostosis can occur as a primary condition (nonsyndromic) or as part of a larger genetic syndrome (syndromic). In cases where a child experiences syndromic craniosynostosis and specific cranial sutures fuse, such as bi-coronal synostosis, a comprehensive evaluation by medical professionals is crucial for accurate diagnosis and management. Furthermore, medical coders must be well-versed in the various types of craniosynostosis and proficient at assigning the appropriate codes, including the newly expanded nonsyndromic codes that took effect on October 1 of this year.

Debbie Jones, CPC, CCA, is the writer and founder of Medical Coding Buff, a blog about medical coding. She helps individuals starting in their medical coding education who are interested in sitting for their CPC credentials. Besides her many articles on medical coding, she strives to make learning fun, engaging, and interactive by providing quizzes, multiple-choice challenges, and crossword puzzles. Receiving an associate's degree from Colorado Technical University (CTU-O) in 2012 in Medical Billing and Coding, Debbie graduated with highest honors. From there, she went on to earn her CCA, CPC-A (now CPC), and HCS-D credentials. She is a member of AAPC and AHIMA and a contributing writer for BC Advantage and JustCoding. She started her career in healthcare as a hospital admitting clerk before moving on to medical transcription for five years. You can reach Debbie at debbie@medicalcodingbuff.com or through her website at medicalcodingbuff.com.