Congenital malformation syndromes predominantly associated with short stature
ICD-10 Q87.1 is a billable code used to indicate a diagnosis of congenital malformation syndromes predominantly associated with short stature.
Congenital malformation syndromes predominantly associated with short stature encompass a variety of genetic and environmental factors leading to growth deficiencies in children. These syndromes often present with a combination of physical anomalies, including but not limited to skeletal dysplasias, craniofacial abnormalities, and organ malformations. Conditions such as Turner syndrome, Noonan syndrome, and achondroplasia are notable examples. Children with these syndromes may exhibit short stature as a primary feature, but they may also have associated congenital malformations affecting the skin, breast, spleen, and adrenal glands. For instance, skin anomalies may include nevi or congenital melanocytic nevi, while breast malformations can range from hypoplasia to ectopic breast tissue. Spleen and adrenal gland abnormalities may manifest as splenic agenesis or adrenal hyperplasia, respectively. Accurate diagnosis and coding require a comprehensive understanding of the associated features and the clinical context, as these syndromes can significantly impact the child's overall health and development.
Pediatric documentation should include growth charts, detailed physical examinations, and descriptions of any congenital anomalies observed.
Common scenarios include routine check-ups for children with known syndromes, evaluations for growth delays, and referrals for genetic counseling.
Considerations include the need for multidisciplinary evaluations and the importance of tracking developmental milestones.
Genetic documentation must include family history, genetic testing results, and detailed descriptions of phenotypic features.
Scenarios include genetic counseling sessions, diagnostic evaluations for suspected syndromes, and follow-up assessments post-diagnosis.
Considerations include the interpretation of genetic tests and the implications for family planning.
Used for follow-up visits for children with congenital malformation syndromes.
Documentation must include growth measurements, developmental assessments, and any new findings.
Pediatricians should ensure comprehensive evaluations are documented.
These syndromes typically present with short stature as a primary feature, along with a range of associated congenital anomalies affecting various organ systems. Accurate coding requires documentation of both the syndrome and any related malformations.
