Klippel-Feil syndrome
ICD-10 Q76.1 is a billable code used to indicate a diagnosis of klippel-feil syndrome.
Klippel-Feil syndrome is a rare congenital condition characterized by the fusion of two or more cervical vertebrae, leading to a shortened neck and restricted neck movement. This syndrome can be associated with various musculoskeletal anomalies, including scoliosis, clubfoot, and limb reduction defects. Patients may present with additional features such as low hairline, limited range of motion in the neck, and other skeletal deformities. The condition is often diagnosed in childhood, and its severity can vary widely among affected individuals. Klippel-Feil syndrome may also be associated with other congenital anomalies, including cardiac defects and renal abnormalities, necessitating a comprehensive evaluation. Genetic factors play a significant role in the etiology of this syndrome, with some cases linked to chromosomal abnormalities. Accurate coding requires careful documentation of associated conditions and any additional congenital malformations present.
Detailed records of physical examinations, imaging studies, and developmental assessments.
Evaluation of a child with neck stiffness and scoliosis; assessment of limb deformities in a patient with Klippel-Feil syndrome.
Consideration of growth and developmental milestones in pediatric patients.
Genetic testing results, family history, and detailed descriptions of any chromosomal abnormalities.
Genetic counseling for families with a history of Klippel-Feil syndrome; assessment of chromosomal abnormalities in affected individuals.
Understanding the genetic basis and inheritance patterns of the syndrome.
Used for routine follow-up visits for patients with Klippel-Feil syndrome.
Document the patient's history, examination findings, and any management plans.
Pediatricians should focus on growth and developmental assessments.
Common associated conditions include scoliosis, clubfoot, limb reduction defects, and potential cardiac and renal anomalies. Comprehensive evaluation is essential for management.
