Sternal malformation-vascular dysplasia syndrome

Sternal malformation-vascular dysplasia syndrome, also known as sternal malformation/hemangioma/vascular dysplasia association or midline sternal malformation-vascular dysplasia sequence, is an extremely rare congenital disorder characterized by the combination of midline sternal defects and vascular anomalies. The condition is present from birth and primarily affects the skeletal system (specifically the sternum or breastbone) and the vascular system. Sternal defects can range from a sternal cleft (partial or complete failure of sternal fusion) to other midline anterior chest wall malformations. The vascular component typically includes cutaneous hemangiomas or other vascular malformations, often located in the cervicofacial region or on the anterior chest wall, and may also include supraumbilical raphe (a midline abdominal ridge). Additional features that have been reported in some patients include a supraumbilical midline raphe, subglottic hemangiomas, and occasionally cardiac anomalies. The constellation of findings suggests a developmental field defect affecting midline structures during embryogenesis. The condition can vary in severity; some patients may have relatively mild sternal clefts with superficial hemangiomas, while others may have more significant chest wall defects requiring surgical intervention. Treatment is primarily surgical and supportive, focusing on repair of the sternal defect when clinically significant and management of vascular lesions. Sternal cleft repair is ideally performed in the neonatal period when the chest wall is still pliable. Hemangiomas may be managed with observation, medical therapy (such as beta-blockers like propranolol), or surgical excision depending on their size, location, and clinical impact. No specific curative therapy exists for the underlying developmental condition.

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