Achondrogenesis
ICD-10 Q77.0 is a billable code used to indicate a diagnosis of achondrogenesis.
Achondrogenesis is a severe congenital disorder characterized by abnormal cartilage and bone development, leading to significant skeletal dysplasia. It is classified into two main types: Type 1 (also known as Achondrogenesis Type 1A) and Type 2 (Achondrogenesis Type 1B). Infants with this condition typically present with short limbs, a disproportionately large head, and a narrow thorax. The condition is often associated with other congenital malformations, particularly of the musculoskeletal system, such as scoliosis, clubfoot, and limb reduction defects. The underlying pathophysiology involves mutations in genes responsible for cartilage formation, leading to impaired ossification and skeletal growth. Diagnosis is usually made through prenatal imaging techniques, such as ultrasound, and confirmed postnatally through radiographic studies. Management is primarily supportive, focusing on palliative care, as the prognosis is generally poor, with many affected infants not surviving beyond the neonatal period.
Detailed clinical notes describing the infant's growth, development, and any associated congenital conditions.
Management of infants with achondrogenesis in the NICU, including respiratory support and orthopedic evaluations.
Attention to the multidisciplinary approach involving genetics, orthopedics, and palliative care.
Genetic testing results, family history, and counseling notes regarding the implications of achondrogenesis.
Prenatal genetic counseling for families with a history of skeletal dysplasias.
Understanding the inheritance patterns and potential for recurrence in future pregnancies.
Used during the NICU admission for an infant diagnosed with achondrogenesis.
Detailed clinical notes outlining the infant's condition, treatment plan, and any associated anomalies.
Pediatric specialists should ensure thorough documentation to support the complexity of care provided.
Common associated conditions include scoliosis, clubfoot, and limb reduction defects, which may complicate the clinical management of affected infants.
