Stickler syndrome and differential diagnosis [22 genes]

Stickler syndrome is a genetic connective tissue disorder characterized by ophthalmological, auditory, orofacial, and articular manifestations. Ocular manifestations include a high risk of retinal detachment, congenital anomalies of vitreous development, myopia, and congenital cataracts. Orofacial features include the Pierre Robin sequence, cleft palate, and midfacial hypoplasia. In addition, congenital sensorineural hearing deficit is usual and may be associated with conductive hearing loss. Musculoskeletal problems include spinal abnormalities, hypermobility, epiphyseal dysplasia, and premature osteoarthritis.

Stickler syndrome: 1 / 7,500-9,000 births (ORPHA:828).

Recommended service in the presence of clinical data suggestive of the entity as the best strategy to jointly address all the genes related to the phenotype.

The benefits derived from a genetic diagnosis in this context can range from family genetic counseling to the prevention of associated comorbidities, such as laser therapy to prevent retinal detachment.

Service indicated when the disease is suspected in the presence of certain characteristic clinical data.

The genes involved in Stickler syndrome have been well characterized, and single nucleotide variants along the responsible gene sequence are the most common mechanism. Thus, the yield of the exome to confirm the suspected diagnosis is approximately 98%.