Ruvalcaba-Myhre-Smith syndrome

This code identifies Ruvalcaba-Myhre-Smith syndrome, a rare genetic disorder characterized by intellectual disability, macrocephaly, intestinal polyposis, and genital anomalies. Patients often present with distinctive facial features, lipomas, and an increased risk of certain cancers.

Use this code for patients diagnosed with Ruvalcaba-Myhre-Smith syndrome based on clinical findings and genetic testing. Documentation should clearly indicate the presence of the characteristic features of the syndrome, such as developmental delay, macrocephaly, and any associated gastrointestinal or genitourinary abnormalities.

• Ensure documentation specifies "Ruvalcaba-Myhre-Smith syndrome" to differentiate from other overgrowth syndromes.
• Code all associated manifestations and complications, such as intellectual disability (F70-F79), intestinal polyps (K62.1), and specific genital anomalies, as secondary diagnoses.
• Avoid using non-specific intellectual disability codes if the specific syndrome is diagnosed and documented.