Bardet-Biedl syndrome
ICD-10 Q87.83 is a billable code used to indicate a diagnosis of bardet-biedl syndrome.
Bardet-Biedl syndrome (BBS) is a rare genetic disorder characterized by a combination of symptoms including obesity, retinal dystrophy, polydactyly, renal abnormalities, and learning difficulties. It is classified as a ciliopathy, which means it arises from defects in the cilia, the tiny hair-like structures on the surface of cells that play a crucial role in cellular signaling and function. Patients with BBS often present with a range of congenital malformations, including skin abnormalities such as hypopigmented patches or nevi, breast hypoplasia, and splenic anomalies. The syndrome is inherited in an autosomal recessive manner, and genetic testing can identify mutations in several genes associated with the condition, including BBS1, BBS10, and others. Early diagnosis and management are essential to address the various health issues associated with BBS, including obesity management, vision care, and renal monitoring. The complexity of BBS lies in its multi-system involvement, requiring a multidisciplinary approach for effective management.
Detailed growth and developmental assessments, including obesity management and vision evaluations.
Pediatric patients presenting with obesity, polydactyly, and learning difficulties requiring multidisciplinary care.
Ensure all congenital anomalies are documented, including skin and renal issues, to support comprehensive coding.
Genetic testing results, family history of congenital conditions, and detailed phenotypic descriptions.
Genetic counseling sessions for families with a history of BBS or related ciliopathies.
Accurate coding of genetic tests and their results is crucial for proper reimbursement and patient care.
Used when genetic confirmation of BBS is required.
Document the reason for testing and the specific genes tested.
Genetic specialists should ensure accurate coding for reimbursement.
Bardet-Biedl syndrome is characterized by obesity, retinal dystrophy, polydactyly, renal anomalies, and learning difficulties. It is important to document all manifestations for accurate coding.
