Mandibulofacial dysostosis
ICD-10 Q75.4 is a billable code used to indicate a diagnosis of mandibulofacial dysostosis.
Mandibulofacial dysostosis, also known as Treacher Collins syndrome, is a congenital condition characterized by the underdevelopment of facial bones, particularly the mandible and zygomatic bones. This condition results in distinctive facial features, including a flat facial profile, underdeveloped cheekbones, and a small jaw. Patients may also present with hearing loss due to malformations of the middle ear structures. The severity of the condition can vary widely among individuals, with some experiencing significant functional impairments while others may have only mild cosmetic concerns. Associated anomalies can include cleft palate, dental abnormalities, and ocular defects. The condition is typically inherited in an autosomal dominant pattern, with mutations in the TCOF1 gene being the most common cause. Diagnosis is primarily clinical, supported by imaging studies to assess the extent of craniofacial anomalies. Early intervention, including surgical correction and supportive therapies, is crucial for improving quality of life and functional outcomes.
Pediatric documentation should include growth parameters, developmental milestones, and any associated congenital anomalies. Detailed descriptions of surgical interventions and outcomes are also necessary.
Common scenarios include initial diagnosis at birth, referrals for surgical correction, and ongoing management of associated conditions such as hearing loss.
Coders should be aware of the need for multidisciplinary documentation, including input from otolaryngology, orthodontics, and speech therapy.
Genetic documentation should include family history, genetic testing results, and counseling notes. Documentation of the inheritance pattern and any genetic syndromes should be included.
Scenarios may involve genetic counseling sessions, diagnostic testing for family members, and discussions about recurrence risks.
Coders must ensure that genetic testing codes are linked appropriately to the diagnosis of mandibulofacial dysostosis.
Used in cases where surgical intervention is required for jaw reconstruction.
Operative reports detailing the procedure and pre-operative assessments.
Documentation should include input from oral and maxillofacial surgery.
Common associated conditions include hearing loss, cleft palate, and dental anomalies. It is important to document these conditions as they may require additional coding and management.
