The craniofacial features range from essentially normal face to dish facies with micrognathia, depressed bridge of the nose, long philtrum, and prominent eyes.
Some cases have mental retardation.
The clinical manifestations are variable and may differ from one patient to another. The radiographic characteristics of the Stickler syndrome during infancy resembles those of the Weisssenbacher-Zweim ller syndrome. Cleft palate, glossoptosis, and abnormal palatal mobility. In infancy, there is rhizomelic shortening of the limbs, metaphyseal widening, diminution of the width of the tubular bones, and hypoplasia of the pelvic bones. Vertebral clefts and flattening.