Short rib syndrome
ICD-10 Q77.2 is a billable code used to indicate a diagnosis of short rib syndrome.
Short rib syndrome is a rare congenital disorder characterized by a group of skeletal dysplasias that primarily affect the ribs and long bones. This condition leads to a shortened rib cage, which can result in respiratory difficulties due to reduced lung volume. The syndrome is often associated with other skeletal abnormalities, including limb deformities, scoliosis, and clubfoot. Patients may present with a variety of clinical features, including short stature, disproportionate body proportions, and potential neurological involvement. The severity of the condition can vary significantly among affected individuals, with some experiencing mild symptoms while others may have severe complications. Diagnosis is typically made through imaging studies, such as X-rays or MRI, which reveal the characteristic skeletal anomalies. Genetic counseling is often recommended, as some forms of short rib syndrome are inherited in an autosomal recessive manner, and understanding the genetic basis can aid in family planning and management.
Detailed growth and development assessments, including height and weight measurements, and any respiratory issues.
Management of a pediatric patient with short rib syndrome presenting with respiratory distress or orthopedic complications.
Consideration of multidisciplinary care involving orthopedics, pulmonology, and genetics.
Genetic testing results, family history, and counseling notes regarding inheritance patterns.
Genetic counseling for families with a history of short rib syndrome or related skeletal dysplasias.
Importance of accurate genetic diagnosis to inform prognosis and management.
Used for follow-up visits in patients with short rib syndrome to monitor growth and respiratory function.
Documentation of clinical findings, treatment plans, and any referrals made.
Pediatricians should ensure comprehensive assessments are documented.
Common associated conditions include scoliosis, clubfoot, limb reduction defects, and respiratory complications due to reduced lung volume. Accurate coding requires documentation of these associated conditions.
