Everything Patients Need To Know About Goldenhar Syndrome

Differential Diagnosis

There are several differential diagnoses for individuals suspected to be affected by Goldenhar syndrome. DiGeorge syndrome or 22q11.2 Deletion syndrome is another rare congenital disease and it presents with heart defects, certain characteristic facial features and deformities, upper cervical spine anomalies, and recurrent infections. Cleidocranial dysplasia is a genetic disorder characterized by hypoplasia, clavicular aplasia, dental anomalies, brachydactyly, and vertebral abnormalities. Hajdu-Cheney syndrome is another rare genetic disorder that produces dysmorphic facial characteristics, vertebral abnormalities, osteoporosis, acroosteolysis, and bowed long bones. CHARGE syndrome is another disorder characterized by choanal atresia, genital hypoplasia, coloboma, restricted growth and development, ear anomalies, and heart anomalies. Robinow syndrome produces dysmorphic facial features, hyperplastic genitalia, vertebral segmentation abnormalities, and short-limbed dwarfism. Jarcho-Levin syndrome causes deformities in the ribs and severe vertebral segmentation. These differential diagnoses must be ruled out to confirm a diagnosis of Goldenhar syndrome.