Kleefstra syndrome
ICD-10 Q87.86 is a billable code used to indicate a diagnosis of kleefstra syndrome.
Kleefstra syndrome is a rare genetic disorder characterized by developmental delay, intellectual disability, and distinctive facial features. It is caused by a deletion or mutation in the EHMT1 gene located on chromosome 9. Patients often present with congenital malformations including cardiac defects, renal anomalies, and skeletal abnormalities. Other common features include hypotonia, behavioral issues, and growth retardation. The syndrome may also manifest with skin abnormalities such as café-au-lait spots or other pigmentation issues. Due to the variability in presentation, a multidisciplinary approach is essential for management, including genetic counseling, developmental support, and monitoring for associated health issues. Accurate coding requires thorough documentation of the patient's clinical features and any associated congenital malformations.
Detailed developmental assessments, growth charts, and records of any congenital anomalies.
Assessment of developmental milestones, management of associated congenital defects, and referrals for therapy.
Pediatric coders must ensure that all congenital anomalies are documented and linked to the primary diagnosis.
Genetic testing results, family history, and detailed descriptions of phenotypic features.
Genetic counseling sessions, diagnosis confirmation through genetic testing, and management of genetic syndromes.
Genetic coders should focus on the specific genetic basis of the condition and any implications for family members.
Used to confirm diagnosis of Kleefstra syndrome.
Documentation of clinical features and family history.
Genetic specialists should ensure comprehensive documentation of the testing process.
Common features include developmental delays, intellectual disability, hypotonia, and various congenital anomalies such as cardiac defects and renal issues. Genetic testing is essential for diagnosis.
