Stickler syndrome

• The diagnosis of Stickler syndrome is made initially by the clinical picture of the patient and his family history, and can be confirmed by molecular analysis.
• Treatment, as in all genetic diseases, is not curative and must always be multidisciplinary depending on the affectations of each patient.

Incidence

It is estimated that the stickler syndrome it affects one in every 7,500 live births each year. It is a dominant inherited disease, that is, it is enough that a single copy of the gene is altered for the disease to be suffered. Different mutations have been discovered in genes responsible for the synthesis of collagen located on various chromosomes, such as 1, 6 or 12.

Based on the affectations, four subtypes of this syndrome have been described.

Symptoms

The symptoms and severity of Stickler syndrome vary widely, but are essentially four target organs or systems of this disease:

-Locomotor system: patients may present with varying degrees of scoliosis of the spine along with vertebral malformations, alterations in the ends of long bones, such as the humerus or femur, excessively lax joints and early signs of osteoarthritis or

-Eyepieces: they are patients with high myopia and who may present (increased intraocular pressure), cataracts, increased risk of retinal detachment, strabismus, vitreous degeneration or chronic uveitis.

-Headphones: About 10% of patients with Stickler syndrome have a hearing deficit of a greater or lesser degree, which can be progressive or occur from the beginning.

Due to malformations of the bones of the face, otitis media is also common during childhood. Both the hearing and visual problems They can affect the learning of children with this syndrome, but their intellectual abilities are not altered at any time by the fact of suffering from this disease.

-Facials: The face of patients with Stickler syndrome is usually flattened due to the lack of full development of the bones of the facial massif. Both the nasal bridge and the cheek bones are flatter than usual, the lower jaw is behind the upper jaw (micrognathia), the palate may be cleft, the uvula split in two (bifid uvula) and often the tongue it is excessively large, which can sometimes block the airway.

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Diagnosis

The diagnosis of Stickler syndrome is made initially by the clinical picture of the patient and his family history, and can be confirmed by molecular analysis. Prenatal diagnosis could be made if the specific abnormality of the gene that caused the disease has been identified in the parents.

Treatment

Treatment, as in all genetic diseases, is not curative and must always be multidisciplinary depending on the affectations of each patient. Follow-up by an ophthalmologist and a rheumatologist is imperative. Likewise, it may be necessary that they also be evaluated by an otolaryngologist and a maxillofacial surgeon depending on the specific alterations that each patient presents.

The prognosis depends on the severity of the affectations of each patient, but with the appropriate medical-surgical interventions these people do not have to see their life expectancy reduced.