Goldenhar syndrome

Named after the Belgian-born American ophthalmologist Maurice Goldenhar.

Genetic essence

 * OMIM: 164210.
 * Inheritance: most cases are sporadic, the described inheritance is autosomal dominant, cases of autosomal recessive inheritance were previously described.

Characteristic features

 * microphthalmia;
 * congenital cataract;
 * preauricular fistula;
 * possibly also atresia of the ear canal;
 * unilateral facial hypoplasia;
 * macrostomia;
 * anomalous position of the teeth;
 * overall retardation in psychological development;
 * anomalies of ribs and vertebrae.