Thanatophoric short stature
ICD-10 Q77.1 is a billable code used to indicate a diagnosis of thanatophoric short stature.
Thanatophoric short stature is a severe skeletal dysplasia characterized by disproportionately short stature and a range of skeletal abnormalities. This condition is caused by mutations in the FGFR3 gene, which plays a crucial role in bone growth and development. Clinically, patients present with features such as short limbs, a narrow thorax, and a disproportionately large head. Other associated anomalies may include clubfoot, hip dysplasia, and limb reduction defects. The condition is often diagnosed through prenatal imaging or at birth, and it is associated with a high mortality rate due to respiratory complications. Management focuses on supportive care and addressing specific skeletal deformities, but the prognosis remains poor, with many affected individuals not surviving past infancy. Understanding the complexities of this condition is essential for accurate coding and appropriate clinical management.
Detailed growth charts, physical examination findings, and imaging results are essential for accurate coding.
Management of infants with thanatophoric short stature in NICU, including respiratory support and orthopedic interventions.
Pediatric coders must be aware of the potential for rapid changes in clinical status and the need for ongoing documentation.
Genetic counseling notes, family history, and results of genetic tests are critical for accurate coding.
Counseling families about the implications of a diagnosis of thanatophoric short stature and discussing recurrence risks.
Genetic coders should ensure that all relevant genetic information is captured to support the diagnosis.
Used for follow-up visits in patients with thanatophoric short stature.
Document the patient's growth, development, and any new concerns.
Pediatricians should ensure comprehensive assessments are documented.
Common associated conditions include clubfoot, hip dysplasia, and limb reduction defects. Accurate documentation of these conditions is essential for proper coding and management.
