Oculomandibular dysostosis
ICD-10 Q75.5 is a billable code used to indicate a diagnosis of oculomandibular dysostosis.
Oculomandibular dysostosis, also known as Treacher Collins syndrome, is a congenital condition characterized by craniofacial abnormalities resulting from the improper development of the first and second pharyngeal arches during embryogenesis. This condition typically presents with features such as underdeveloped facial bones, particularly the mandible and zygomatic bones, leading to a characteristic appearance. Patients may also exhibit hearing loss due to malformations of the middle ear structures. Other associated anomalies can include cleft palate, coloboma of the eyelids, and dental abnormalities. The severity of the condition can vary widely among affected individuals, with some experiencing significant functional impairments while others may have only mild cosmetic concerns. Genetic mutations, particularly in the TCOF1 gene, are implicated in the majority of cases, highlighting the importance of genetic counseling and testing in affected families. Early intervention, including surgical correction of facial deformities and audiological support, is crucial for improving quality of life and functional outcomes.
Detailed growth and developmental assessments, including any surgical interventions and outcomes.
Management of feeding difficulties, hearing assessments, and surgical planning for craniofacial reconstruction.
Consideration of the psychosocial impact on the child and family, as well as the need for ongoing developmental support.
Genetic testing results, family history, and counseling notes regarding inheritance patterns.
Prenatal counseling for families with a history of oculomandibular dysostosis and postnatal genetic evaluations.
Understanding the implications of genetic findings for family planning and potential recurrence risks.
Used in conjunction with Q75.5 for surgical interventions.
Operative reports detailing the procedure and indications.
Pediatric surgical notes must include preoperative assessments and postoperative follow-up.
Common associated conditions include conductive hearing loss, cleft palate, and dental anomalies. Each of these requires careful documentation and may necessitate additional coding.
