Diseases

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.

Spondylometaphyseal dysplasia- X-linked

Spondylometaphyseal dysplasia, X-linked: A rare disorder characterized by spine and long bone abnormalities and facial anomalies. The disorder is inherited in a X-linked manner which means that males exhibit the full extent of the symptoms whereas female carriers often have only mild symptoms.

Spondyloperipheral dysplasia short ulna

Spondyloperipheral dysplasia - short ulna: A rare inherited disorder characterized by a short forearm bone (ulna) and other skeletal anomalies such as short hands and feet.

Spongiform encephalopathy

Spongiform encephalopathy: A rare inherited prion disease which has a range of manifestations resulting primarily from degeneration of the nervous system.

Spontaneous periodic hypothermia

Spontaneous periodic hypothermia: A rare disorder characterized by recurring periods of hypothermia that occur for no obvious reason.

Sporotrichosis

Sporotrichosis is a long-term (chronic) skin infection due to a certain fungus.

Spotted fever

A spotted fever is a type of tick-borne disease which presents on the skin.Rocky Mountain spotted fever is an infectious disease caused by bacteria carried by ticks.

Spranger Schinzel Myers syndrome

Spranger-Schinzel-Myers syndrome: A very rare syndrome characterized by brain malformation, underdeveloped fingers and bone abnormalities. It is believed to be possibly caused by exposure to ergotamine and diazoxide which may be teratogenic.

Sprengel deformity

Sprengel's deformity is a condition where the scapula (shoulder blade) on one or both sides are underdeveloped (hypoplastic) and abnormally high. It is due to failure of descent of the scapula during embryonic development from its position in the neck to its normal position in the posterior thorax.. It happens usually in girls, and may have a genetic basis in some instances.

Squamous cell carcinoma of head and neck

Cancers that are known collectively as head and neck cancers usually begin in the squamous cells that line the moist, mucosal surfaces inside the head and neck (for example, inside the mouth, the nose, and the throat). These squamous cell cancers are often referred to as squamous cell carcinomas of the head and neck. At least 75 % of head and neck cancers are caused by tobacco and alcohol use. Infection with cancer-causing types of human papillomavirus (HPV), especially HPV-16, is a risk factor for some types of head and neck cancers. The symptoms of head and neck cancers may include a lump or a sore that does not heal, a sore throat that does not go away, difficulty in swallowing, and a change or hoarseness in the voice. Treatment for head and neck cancer can include surgery, radiation therapy, chemotherapy, targeted therapy, or a combination of treatments.

Squamous Cell Carcinoma of the Anal Canal

Squamous Cell Carcinoma (SCC) of the anal canal is a rare, increasing malignancy (2–4% of gastrointestinal cancers) often linked to HPV and HIV, predominantly affecting the squamous epithelium. Common symptoms include anal bleeding, pain, and, in some cases, a palpable mass. Standard treatment involves sphincter-preserving combined chemoradiation (Nigro protocol) rather than upfront surgery.