What is Spondyloepiphyseal dysplasia congenita?
Spondyloepiphyseal dysplasia congenita (SEDc) is a rare genetic disorder that results in short stature and skeletal anomalies that primarily affect the spine and long bones of the arms and legs. A form of dwarfism, children with SEDc often have vision and hearing issues. The condition is present at birth.
Is Spondyloepiphyseal dysplasia congenita inherited?
Spondyloepiphyseal dysplasia congenita can be inherited with an autosomal dominant gene, which means one parent passes the gene to the child. But many patients acquire the disease because of a new mutation, or a new change in a gene.
Is SED hereditary?
Spondyloepiphyseal dysplasia tarda (SEDT; SEDL) is a rare, hereditary skeletal disorder that primarily affects males. Physical characteristics include moderate short stature (dwarfism), moderate-to-severe spinal deformities, barrel-shaped chest, disproportionately short trunk, and premature osteoarthritis.
What is spinal cord dysplasia?
Background. Skeletal dysplasia is a heterogeneous group of over 500 genetically-mediated disorders that affect the development, growth and maintenance of bone and cartilage, leading to disproportionate short stature and abnormalities of the extremities and spine [1].
What are the types of dysplasia?
Dysplasia is a broad term that refers to the abnormal development of cells within tissues or organs….Some additional types include:
- renal dysplasia.
- vocal cord dysplasia.
- cleidocranial dysplasia.
- bronchopulmonary dysplasia.
- polyostotic fibrous dysplasia.
- Barrett’s esophagus with dysplasia.
Can dysplasia be cured?
In most cases, mild dysplasia resolves on its own and doesn’t become cancerous. Your doctor may recommend follow-up in a year to check for additional changes. If you have severe dysplasia (CIN II or III), your doctor may recommend treatment, such as surgery or other procedures to remove the abnormal cells.
What are the stages of dysplasia?
There are 3 levels: CIN I (mild dysplasia) CIN II (moderate to marked dysplasia) CIN III (severe dysplasia to carcinoma in situ)
What is spondyloepiphyseal dysplasia congenita?
Spondyloepiphyseal dysplasia congenita is a rare genetic disorder that involves spinal and epiphyseal enlargement (enlargement of the area at the end of the long bones). Classified as a type 2 collagen defect, it affects a structure of connective tissue (collagen) that supports many parts of the body.
What is spondyloepiphyseal dysplasia (SEDC)?
Introduction Spondyloepiphyseal dysplasia is a form of skeletal dysplasia (osteochondrodysplasia), a broad term for a group of disorders characterized by abnormal growth or development of cartilage or bone. SEDC is characterized by distinctive skeletal malformations affecting the long bones…
What are the different types of spondyloepiphyseal disorders?
There are two main types of SED, spondyloepiphyseal dysplasia congenita (which is present from bith) and spondyloepiphyseal dysplasia tarda (which develops later in childhood or adolescence).
What is spondyloepiphyseal dysplasia tarda?
Characteristic involvement includes underdevelopment and fragmentation of the bone and cartilage of the epiphyses, which are the rounded ends or “heads” of the long bones, and underdevelopment or malformation of the vertebrae. There are two main forms of spondyloepiphyseal dysplasia, SEDC and spondyloepiphyseal dysplasia tarda (SEDT).