Heart and Brain Malformation Syndrome (HBMS) is an extremely rare and severe multiple congenital anomaly syndrome. This syndrome is characterized by delayed psychomotor development, facial dysmorphism, cardiac defects and brain malformation. Facial dysmorphism may consist of microcephaly, microphthalmia, low, set and malformed ears, depressed nasal bridge, highly arched palate, and cleft lip. Patients are hypotonic with hyperactive limb reflexes. Cardiac abnormalities include interrupted aortic arch, hypoplastic valves, and ventricular septal defect. Cranial imaging in patients shows various abnormalities, including Dandy Walker malformation, decreased myelination, and thinning of corpus callosum.
Diagnosis is made through clinical and radiological evaluation. Treatment is supportive.