Diseases

Spondylarthritis

Spondylitis (also called spondyloarthropathy, or Spondyloarthritis) is the name for a family of inflammatory rheumatic diseases that cause arthritis. The most common is ankylosing spondylitis, which affects mainly the spine. Others include:

- axial spondyloarthritis, which affects mainly the spine and pelvic joints;

Within axial SpA there are 2 groups:

- Ankylosing Spondylitis (AS): Where the x-ray changes are clearly present.

- Non-radiographic axial spondyloarthritis (nr-axSpA): Where x-ray changes are not present but you have symptoms.

Up to 70% of people in this group have visible inflammation in the sacroiliac joints and/or the spine when an MRI of the back is done.

30% of people in this group may not have any change visible on the MRI despite symptoms of back pain. In fact some of these patients may never show any inflammation on an MRI even if this is repeated later on in life. The reasons for this are still not well understood but may be due to how sensitive our methods to image the joints are.

- peripheral spondyloarthritis, affecting mostly the arms and legs;

- reactive arthritis (formerly known as Reiter's syndrome);

- psoriatic arthritis;

- enteropathic arthritis/spondylitis associated with inflammatory bowel diseases (ulcerative colitis and Crohn's disease).

 

Spondylo costal dysostosis dandy walker

Spondylo costal dysostosis dandy walker (medical condition): A rare syndrome characterized mainly by rib and spine abnormalities as well as the Dandy-Walker anomaly (brain cyst).

Spondylocamptodactyly

Spondylo camptodactyly syndrome: A very rare syndrome characterized by a finger abnormality, curved spine and flat neck vertabrae.

Spondylocarpotarsal synostosis

Spondylocarpotarsal synostosis: A rare genetic disorder characterized by short stature, fusion of toe and finger bones and failure of spinal segmentation.

Spondylocostal dysostosis- autosomal recessive

Spondylocostal dysostosis, autosomal recessive: A rare, recessively inherited syndrome characterized mainly by rib and spine abnormalities. The recessive form is more severe than the dominantly inherited form.

Spondyloenchondrodysplasia

Spondyloenchondrodysplasia (medical condition): A rare genetic disorder where abnormal bone development resluts in symptoms such as flattened spine bones, short stature, large joints and other anomalies. The disorder is also characterized by the development of benign cartilage growths in bones which affects it's growth and strength.

Spondyloepimetaphyseal dysplasia with hypotrichosis

Spondyloepimetaphyseal dysplasia, hypotrichosis: An inherited bone growth disorder characterized by short stature, bone abnormalities and vision problems. An additional feature of this condition is the reduced amount of hair (hypotrichosis). The bone abnormalities are due to a genetic mutation that affects the development of bone and connective tissue.

Spondyloepimetaphyseal dysplasia- Genevieve type

Spondyloepimetaphyseal dysplasia, genevieve type: A recessively inherited disorder characterized mainly by abnormal bone development (epiphyses, metaphyses and vertebrae) as well as mental retardation. The abnormalities become progressively worse with age.

Spondyloepiphyseal dysplasia congenita

Spondyloepiphyseal dysplasia congenita (abbreviated to SED more often than SDC) is a rare disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and occasionally problems with vision and hearing. The name of the condition indicates that it affects the bones of the spine (spondylo-) and the ends of bones (epiphyses), and that it is present from birth (congenital). The signs and symptoms of spondyloepiphyseal dysplasia congenita are similar to, but milder than, the related skeletal disorders achondrogenesis type 2 and hypochondrogenesis. Spondyloepiphyseal dysplasia congenita is a subtype of collagenopathy, types II and XI.

Spondyloepiphyseal dysplasia nephrotic syndrome

Spondyloepiphyseal dysplasia - nephrotic syndrome: A very rare syndrome characterized by skeletal and immunity abnormalities. The immune defect leads to progressive kidney dysfunction which can ultimately cause death during the first decade.

Spondyloepiphyseal dysplasia tarda

Spondyloepiphyseal dysplasia is a rare hereditary disorder characterized by growth deficiency, spinal malformations, and, in some cases, ocular abnormalities.

Spondyloepiphyseal dysplasia tarda- Toledo type

Spondyloepiphyseal dysplasia tarda, Toledo type: A rare bone development disorder caused by a deficiency of chondroitin sulfate. The short stature tends to be moderate and an eye abnormality is also usually present.

Spondyloepiphyseal dysplasia- congenita

Spondyloepiphyseal dysplasia is a rare hereditary disorder characterized by growth deficiency, spinal malformations, and, in some cases, ocular abnormalities.

Spondyloepiphyseal dysplasia- Omani type

Spondyloepiphyseal dysplasia (SED), Omani type (OMIM 608637) is a recessively inherited skeletal dysplasia previously described in two distantly related families from the Republic of Oman. The phenotype consists of short stature, severe kyphoscoliosis, arthritic joints (elbows, wrists, knees), secondary large joint dislocations, rhizomelia, fusion of carpal bones and mild brachydactyly. Affected individuals were homozygous for a missense mutation, R304Q in CHST3 that encodes the enzyme chondroitin 6-O-sulfotransferase-1 (C6ST-1). This enzyme mediates the sulfation of proteoglycans, particularly chondroitin sulfate (CS), in the extracellular matrix of cartilage. Here we describe the identification of a mutation (857T > C predicting the substitution L286P) in CHST3 in a Turkish family and extend the clinical phenotype of SED-Omani type to include congenital joint dislocation, club feet, ventricular septal defect, deafness, metacarpal shortening and accessory carpal ossification centers. Fibroblasts and urine obtained from affected patients demonstrated negligible levels of 6-O-sulfated GalNAc residue in CS. Furthermore, the 6-O-sulfotransferase activity of cloned C6ST-1 into which the L286P mutation had been introduced was dramatically reduced, confirming the pathogenicity of this substitution. These results indicate that the clinical consequences of a deficiency of 6-O-sulfation in CS can be varied and that a clinical spectrum may exist similar to that seen in other skeletal dysplasias characterized by disorders of proteoglycan sulfation.

Spondylometaphyseal dysplasia with dentinogenesis imperfecta

Spondylometaphyseal dysplasia with dentinogenesis imperfecta: A rare skeletal disorder involving abnormal bone development. The condition is characterized by abnormal growth of long bones, loose joints and tooth enamel abnormalities. The shortness in the arms and legs occurs mainly in the middle bones such as the forearm and lower leg bones.

Spondylometaphyseal dysplasia- ‘corner fracture’ type

Spondylometaphyseal dysplasia, 'corner fracture' type (medical condition): A rare inherited bone development disorder characterized by vertebra abnormalities, short stature and what appears to be fragments of bone at the ends of some long bones.

Spondylometaphyseal dysplasia- Algerian type

Spondylometaphyseal dysplasia, Algerian type: A severe, dominantly inherited skeletal disorder involving abnormal bone development. The condition is characterized by knock knees, curved spine, short stature and abnormal growth of long bones.

Spondylometaphyseal dysplasia- axial

Spondylometaphyseal dysplasia, axial: A rare skeletal disorder involving abnormal bone development. The condition is characterized by flattened vertebrae, small rib cage, abnormal ribs and other bone abnormalities.

Spondylometaphyseal dysplasia- east-African type

Spondylometaphyseal dysplasia, east-African type: A rare, early-onset skeletal disorder involving abnormal bone development. The spine is mildly affected and the hands are spared but the growing ends of long bones are deformed (bracket-shaped) which affects bone growth.

Spondylometaphyseal dysplasia- Sedaghatian type

Spondylometaphyseal dysplasia, Sedaghatian type: A very rare syndrome characterized by abnormal bone development with short arms and flattened vertebrae. Death usually occurs within days of birth.