Diagnosis is made based on features as well as by the very early onset of serious eye and ear disease. Because<unk>  is an autosomal dominant hereditary disease, physicians can also note the characteristic appearance of the biological parent of the child. There are no tests for Stickler syndrome or<unk> . Some families with Stickler syndrome have been shown to have mutations in the Type II collagen gene on chromosome 1. However, other families do not show the linkage to the collagen gene. It is an area of active research, also the genetic testing being expensive supports that the diagnosis is made depending on the features.
Marshall syndrome
TORCH syndrome
Christianson syndrome
Avellis syndrome
Noonan syndrome
Hanhart syndrome
Laron syndrome
Goldenhar syndrome