The Stickler syndrome

Abstract

In 1965 Stickler and associates delineated an autosomal dominant connective tissue dysplasia which they designated hereditary progressive arthroophthalmopathy. It since has become known as the Stickler syndrome. Due to great variability of the clinical manifestations, it has been described in the literature under various names. We suspect that most instances of familial Pierre Robin syndrome, retinal detachment and cleft palate, and retinal detachment and arthropathy in fact describe the Stickler syndrome. Here we would like to document the clinical spectrum of the condition based on personal experience with 51 patients from 14 families. Families or patients were diagnosed as having Stickler syndrome if they showed severe myopia, retinal detachment, cleft palate and midface or mandibular hypoplasia. Generalized hypotonia, joint hyperextensibility and arthropathy often were associated findings. The manifestations were grouped into general skeletal, orofacial and ocular symptom complexes. Members of 12 out of 13 lies showed manifestations of each of these symptom complexes, but the variability in different members of one family often was remarkable. Familial cases showed autosomal dominant transmission. There was apparently complete penetrance for 2 instances. Of over 90 apparently affected individuals in 14 families, we personally examined 51. None of the patients showed all these manifestations. Often the clinical picture was variable within a family. In order of decreasing frequency, the most common manifestations in the 51 patients were: myopia (35), joint hyperextensibility (31), maxillary or mandibular hypoplasia (27), flat face (26) cleft palate (24), marfanoid body build (16), scoliosis (16), spondyloepiphyseal dysplasia (15), retinal detachment (10), cataracts (5) and hearing loss (4). Seven patients were blind, 6 were mentally retarded and 14 had severe myopia and a cleft palate. The skeletal changes are usually mild, but may be present at an early age.