Because the variability of this disease is so great and the way that it reveals itself could be multi-faceted; once diagnosed, a multidisciplinary team is recommended to treat the disease and should include a craniofacial surgeon, ophthalmologist, pediatrician, pediatric urologist, cardiologist, pulmonologist, speech pathologist, and a medical geneticist. Several important steps must be followed, as well. * Past medical history * Physical examination with special attention to size and measurements of facial features, palate, heart, genitourinary system and lower respiratory system * Eye evaluation * Hypospadias assessment by urologist * Laryngoscopy and chest x-ray for difficulties with breathing/swallowing * Cleft lip/palate assessment by craniofacial surgeon * Assessment of standard age developmental and intellectual abilities * Anal position assessment * Echocardiogram * Cranial imaging Many surgical repairs may be needed, as assessed by professionals. Furthermore, special education therapies and psychoemotional therapies may be required, as well. In some cases, antireflux drugs can be prescribed until risk of breathing and swallowing disorders are removed. Genetic counseling is highly advised to help explain who else in the family may be at risk for the disease and to help guide family planning decisions in the future. Because of its wide variability in which defects will occur, there is no known mortality rate specifically for the disease. However, the leading cause of death for people with<unk>  is due to infant death caused by aspiration due to esophageal, pharyngeal or laryngeal defects. Fortunately, to date there are no factors that can increase the expression of symptoms of this disease. All abnormalities and symptoms are present at birth. Since the symptoms caused by this disease are present at birth, there is no “cure.” The best cure that scientists are researching is awareness and genetic testing to determine risk factors and increase knowledgeable family planning. Prevention is the only option at this point in time for a cure.
Opitz G/BBB syndrome
Lown–Ganong–Levine syndrome
Long QT syndrome
Buschke–Ollendorff syndrome
Carney's triad
Short QT syndrome
Pacak–Zhuang syndrome
Pascual-Castroviejo syndrome type 1