The diagnosis of<unk>  is often difficult, because it is rare. The syndrome spans many disciplines, and as such, can be diagnosed by a pediatrician, family medicine physician, oral and maxillofacial surgeon, ENT specialist, ophthalmologist, endocrinologist, cardiologist, urologist, developmental specialist, radiologist, geneticist, physiotherapist, occupational therapist, speech therapist, or orthopedic specialist. Signs Although genetic testing positively identifies nearly two thirds of children with<unk> , diagnosis is still largely clinical. The following signs were originally identified in children with this syndrome, but are no longer used to make the diagnosis alone. * C – Coloboma of the eye, central nervous system anomalies * H – Heart defects * A – Atresia of the choanae * R – Retardation of growth and/or development * G – Genital and/or urinary defects (hypogonadism, undescended testicles, besides hypospadias) * E – Ear anomalies and/or deafness and abnormally bowl-shaped and concave ears, known as "lop ears". Genetic testing Genetic testing for<unk>  involves specific genetic testing for the CHD7 gene. The test is available at most major genetic testing laboratories. Insurance companies sometimes do not pay for such genetic tests, though this is changing rapidly as genetic testing is becoming standard across all aspects of medicine.<unk>  is a clinical diagnosis, which means genetic testing is not required in order to make the diagnosis. Rather, the diagnosis can be made based on clinical features alone. Screening other organ systems Once the diagnosis is made based on clinical signs, it is important to investigate other body systems that may be involved. For example, if the diagnosis is made based on the abnormal appearance of the ears and developmental delay, it is important to check the child's hearing, vision, heart, nose, and urogenital system. Ideally, every child newly diagnosed with<unk>  should have a complete evaluation by an ENT specialist, audiologist, ophthalmologist, pediatric cardiologist, developmental therapist, and pediatric urologist.
CHARGE syndrome
GRACILE syndrome
GAPO syndrome
Flynn–Aird syndrome
DeSanto-Shinawi syndrome
Alagille syndrome
Rotor syndrome
Diogenes syndrome