Ruvalcaba-Myhre-Smith syndrome
ICD-10 E71.440 is a billable code used to indicate a diagnosis of ruvalcaba-myhre-smith syndrome.
Ruvalcaba-Myhre-Smith syndrome is a rare genetic metabolic disorder characterized by a combination of developmental delays, intellectual disability, and distinctive facial features. This condition is caused by mutations in the GPR37 gene, which plays a crucial role in the regulation of various metabolic processes. Patients often present with hypotonia, seizures, and growth retardation. The syndrome may also involve skeletal abnormalities and other systemic manifestations. Diagnosis is typically made through clinical evaluation and genetic testing to identify specific mutations. Management of Ruvalcaba-Myhre-Smith syndrome is multidisciplinary, focusing on supportive care, developmental therapies, and addressing specific symptoms as they arise. Due to its rarity, awareness among healthcare providers is essential for timely diagnosis and intervention.
Detailed family history and genetic testing results must be documented.
Genetic counseling sessions for affected families and follow-up appointments for management.
Ensure that genetic testing results are clearly linked to the diagnosis in documentation.
Comprehensive developmental assessments and growth charts should be maintained.
Routine check-ups for developmental milestones and management of associated symptoms.
Document any referrals to specialists for co-morbid conditions.
Used when confirming a diagnosis of Ruvalcaba-Myhre-Smith syndrome.
Documentation of clinical indications for genetic testing and results.
Genetic specialists should ensure that the rationale for testing is clearly documented.
Ruvalcaba-Myhre-Smith syndrome is a rare genetic metabolic disorder characterized by developmental delays, intellectual disability, and distinctive facial features, caused by mutations in the GPR37 gene.
Diagnosis is made through clinical evaluation and genetic testing to identify mutations in the GPR37 gene.
Common symptoms include developmental delays, hypotonia, seizures, and growth retardation.
Management is multidisciplinary, focusing on supportive care, developmental therapies, and addressing specific symptoms as they arise.
