Everything Patients Need To Know About Goldenhar Syndrome

Other Conditions In Craniofacial Microsomia

Craniofacial microsomia is an umbrella term used to characterize a spectrum of skull and face development abnormalities that develop before an individual's birth. Goldenhar syndrome falls into the classification of craniofacial microsomia, as does Goldenhar-Gorlin syndrome, hemifacial microsomia, lateral facial dysplasia, oral-mandibular-auricular syndrome, otomandibular dysostosis, OAV complex, and many others. General characteristics seen in most forms of craniofacial microsomia include mandibular hypoplasia, ear abnormalities, maxillary hypoplasia, unusually small eyeball, malformations in the bones of the spine, irregularly shaped kidneys, and defects in the heart's structure. Craniofacial microsomia is estimated to have a prevalence of between one per 5,600 births and one per 26,550 births worldwide. Most other forms of craniofacial microsomia, like Goldenhar syndrome, have an imbalance in the proportion of affected males to affected females. Most forms of craniofacial microsomia are the result of an inherited or sporadic duplication or deletion of certain genetic components that influence the normal development and growth of facial components and other tissues.

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.