Achondroplasia
ICD-10 Q77.4 is a billable code used to indicate a diagnosis of achondroplasia.
Achondroplasia is a genetic disorder characterized by an abnormality in the growth of cartilage, leading to disproportionate short stature. It is the most common form of skeletal dysplasia, resulting from a mutation in the FGFR3 gene, which regulates bone growth. Individuals with achondroplasia typically present with a normal-sized torso and shorter limbs, particularly affecting the long bones. Other associated features may include macrocephaly, prominent forehead, and a flattened nasal bridge. The condition is usually diagnosed at birth or during early childhood through clinical evaluation and radiographic findings. Achondroplasia is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene can cause the disorder. While the condition itself is not life-threatening, it can lead to various complications, including spinal stenosis, obesity, and orthopedic issues such as scoliosis or limb deformities. Management often involves a multidisciplinary approach, including pediatricians, orthopedic surgeons, and genetic counselors, to address the various health concerns associated with the condition.
Pediatric documentation should include growth measurements, developmental milestones, and any orthopedic evaluations.
Common scenarios include routine check-ups, evaluations for orthopedic issues, and assessments for developmental delays.
Coders should ensure that all relevant clinical findings are documented to support the diagnosis and any associated conditions.
Genetic documentation needs to include results from genetic testing, family history, and any counseling provided.
Genetic counseling sessions, diagnostic evaluations, and discussions regarding recurrence risks in families.
Accurate coding requires detailed documentation of genetic findings and family history to support the diagnosis of achondroplasia.
Used for routine follow-up visits for children with achondroplasia.
Documentation must include growth measurements and developmental assessments.
Pediatricians should ensure comprehensive evaluations are documented.
Achondroplasia is primarily caused by a mutation in the FGFR3 gene, which affects the growth of cartilage and bone, leading to characteristic skeletal features.
