Congenital malformation syndromes involving early overgrowth
ICD-10 Q87.3 is a billable code used to indicate a diagnosis of congenital malformation syndromes involving early overgrowth.
Congenital malformation syndromes involving early overgrowth are characterized by excessive growth of tissues and organs that can lead to various health complications. These syndromes often present with a combination of physical anomalies, including but not limited to, overgrowth of limbs, facial features, and internal organs. Conditions such as Beckwith-Wiedemann syndrome, Sotos syndrome, and Simpson-Golabi-Behmel syndrome fall under this category. Patients may exhibit macrocephaly, organomegaly, and other associated congenital malformations such as skin tags, breast tissue abnormalities, and splenic anomalies. The pathophysiology often involves genetic mutations affecting growth regulation pathways, leading to dysregulated cellular proliferation. Accurate diagnosis typically requires a multidisciplinary approach, including genetic testing, imaging studies, and clinical evaluation to identify associated anomalies and guide management.
Pediatric documentation must include detailed growth charts, physical examination findings, and any developmental assessments.
Common scenarios include referrals for evaluation of overgrowth, management of associated congenital anomalies, and monitoring for complications.
Considerations include the need for ongoing surveillance for malignancies in syndromes like Beckwith-Wiedemann syndrome.
Genetic documentation should include family history, results of genetic testing, and any genetic counseling provided.
Scenarios include genetic counseling for families with a history of congenital malformation syndromes and interpretation of genetic test results.
Considerations include the implications of genetic findings on family planning and the need for multidisciplinary care.
Used in conjunction with Q87.3 for confirming genetic diagnosis.
Documentation of clinical findings and rationale for testing.
Geneticists should ensure comprehensive family history is included.
Documentation must include clinical findings related to overgrowth, any associated congenital anomalies, and results from genetic testing if applicable. Growth charts and developmental assessments are also critical.
