Spondyloepiphyseal dysplasia- congenita
Overview
Spondyloepiphyseal dysplasia is a rare hereditary disorder characterized by growth deficiency, spinal malformations, and, in some cases, ocular abnormalities.
Diagnosis
X rays may be used to diagnose spondyloepiphyseal dysplasia when it is suspected.
Prognosis
Prognosis is variable dependent upon severity of the disorder. Generally, congenital spondyloepiphyseal dysplasia is more symptomatic than spondyloepiphyseal dysplasia tarda. Neither form of the disorder generally leads to shortened life span. Cognitive function is generally normal.
Treatment
Congenital spondyloepiphyseal dysplasia Treatment is mostly symptomatic, and may include: * Orthopedic care throughout life. Early surgical interventional may be needed to correct clubfoot and/or cleft palate. Hip, spinal, and knee complications may occur, and hip replacement is sometimes warranted in adults. Additionally, arthritis may develop due to poorly developed type II collagen. Spinal fusion may be indicated if evaluation of the cervical vertebrae C1 and C2 detects odontoid hypoplasia. If the odontoid is hypoplastic or small, it may predispose to instability and spinal cord compression in congenital spondyloepiphyseal dysplasia). * Ophthalmologic examinations are important for the prevention of retinal detachment and treatment of myopia and early retinal tears if they occur. * Hearing should be checked and ear infections should be closely monitored. Tubes may need to be placed in the ear. * Due to neck instability, persons with SEDC should exercise caution to avoid activities/sports that could result in trauma to the neck or head. Individuals with congenital spondyloepiphyseal dysplasia should be closely monitored during anesthesia and for complications during a respiratory infection. In particular, during anesthesia, special attention is required to avoid spinal injury resulting from lax ligaments causing instability in the neck. This condition may also result in spinal injury in contact sports and car accidents. Chest constriction may also cause decreased lung capacity.