Diseases

Rud Syndrome

A condition characterized by ichthyosis, epilepsy, short stature, hypogonadism and severe mental retardation.

Rudd Klimek syndrome

A very rare syndrome characterized mainly by abnormal development of the tailbone with deformities of the urogenital area as well as other anomalies

Rufous oculocutaneous albinism

A rare inherited disorder characterized by abnormal pigmentation balance in the skin, eyes and hair (due to a genetic mutation of the MC1R gene). Tyrosinase, which is needed for the production of melanin which gives the skin, hair and eyes their color, is present but but a pigmentation imbalance causes a distinctive reddish coloration to the skin and hair.

Rumination disorder

Rumination disorder may be diagnosed when a person deliberately brings food back up into the mouth and either rechews and reswallows it or spits it out.

Ruvalcaba syndrome

A very rare disorder characterized by short stature, skeletal abnormalities, mental retardation and distinctive facial features.

Ruzicka Goerz Anton syndrome

A rare genetic syndrome characterized by rough scaly skin, deafness, mental retardation and skeletal anomalies.

Ryanodine Receptor 1 Related Myopathies

RYR-1-related diseases are inherited forms of muscle disease resulting in a wide range of symptoms, including muscle weakness, a potentially fatal reaction to general anesthesia (malignant hyperthermia), and rhabdomyolysis. Individuals are born with RYR-1-related diseases, inheriting a defective mutation from one or both parents, or a spontaneous mutation (de novo). Mutations or changes in the RYR1 gene are the most common cause of congenital muscle disease.

The RyR1 receptor is a channel in muscle cells that regulate the flow of calcium, a critical component of muscle contraction. A reduced number and/or abnormal RyR1 channels lead to dysfunctional muscle contractions. There are a wide range of symptoms of RYR-1-related diseases, but they are typically either non-progressive or very slowly progressive.

Saal Bulas syndrome

A very rare syndrome characterized mainly by lobster-like hands, diaphragmatic hernia and a brain abnormality.

Sackey Sakati Aur syndrome

A very rare syndrome characterized mainly by a blood disorder and various congenital anomalies such as short stature and a thumb abnormality.

Sacral agenesis

A very rare syndrome characterized mainly by the abnormal development of the tailbone (sacrum).

Sacral plexopathy

Nerve disorder involving the sacral plexus which is a group of nerves that start in the lower tailbone area and supply the lower legs. The sciatic nerve is involved in the group of nerves. The nerve damage can occur through trauma disease or tumors.

Sacrococcygeal Teratoma

Sacrococcygeal Teratoma / SCT is a tumor made up of tissues from the three primary layers of cells defined in embryos, or germ layers. Sacrococcygeal Teratoma / SCT appear in the lower back and buttocks. The tumors can grow at an unpredictable rate to very large dimensions and present both inside and outside the fetal pelvis. Some tumors are diagnosed in utero, others at birth.

Though a rare condition (1 in 35,000-40,000 births), Sacrococcygeal Teratoma / SCT is one of the most common tumors in newborns. Females are four times more likely to be affected than males. Malignancies are more frequent in males.

Source: Fetal Care Center of Cincinnati

Saethre-Chotzen syndrome

Saethre-Chotzen syndrome is an inherited disorder that affects one in every 50,000 individuals. The syndrome is characterized by early and uneven fusion of the bones that make the skull (cranium). This affects the shape of the head and face, which may cause the two sides to appear unequal. The eyelids are droopy; the eyes widely spaced. The disorder is also associated with minor birth defects of the hands and feet. In addition, some individuals have mild mental retardation. Some individuals with Saethre-Chotzen syndrome may require some medical or surgical intervention.

Saito Kuba Tsuruta syndrome

A very rare syndrome characterized by kidney abnormalities and an abnormal calf bone or forearm bone (ulna). Only a few cases of the syndrome have been reported.

Sakati syndrome

A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.

Salivary gland cancer- adult

There are different types of treatment for patients with salivary gland cancer. Different types of treatment are available for patients with salivary gland cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. Before starting treatment, patients may want to think about taking part in a clinical trial. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Clinical trials are taking place in many parts of the country. Information about ongoing clinical trials is available from the NCI Web site. Choosing the most appropriate cancer treatment is a decision that ideally involves the patient, family, and health care team. Patients with salivary gland cancer should have their treatment planned by a team of doctors who are experts in treating head and neck cancer.

Salla disease

Salla disease (also called sialic acid storage disease or Finnish type sialuria) is an autosomal recessive lysosomal storage disease characterized by early physical impairment and mental retardation. First described in 1979, Salla disease is named after Salla, a municipality in Finnish Lapland. Salla disease is one of 40 Finnish heritage diseases and affects approximately 130 individuals, mainly from Finland and Sweden.

Sammartino Decreccio syndrome

Sammartino Decreccio syndrome: Another name for Corneal dystrophy - ichthyosis - microcephaly - mental retardation (or close medical condition association). Corneal dystrophy - ichthyosis - microcephaly - mental retardation: A very rare syndrome characterized by vision loss, scaly skin, small head and mental retardation.

Samson Gardner syndrome

A very rare syndrome characterized mainly by premature fusion of skull bones, small skull, elbow fusion and thumb abnormalities. There is also an abnormal sack of fluid between the brain and the skull.

Samson Viljoen syndrome

A very rare syndrome characterized by small ears, abnormal chest wall and facial, lip and palate clefts.

Sanderson Fraser syndrome

A very rare syndrome characterized by overlapping fingers, abnormally placed urethral opening in males, protruding eyes and Robin association (small jaw and downward displaced tongue).