Diseases

ROSAH syndrome

ROSAH syndrome is an autoinflammatory disease with a highly variable phenotype, including (in addition to the ROSAH-defining features) recurrent fever, cytopenias, dental and nail abnormalities, sicca syndrome, and meningeal inflammation on brain MRI.

Rosai-Dorfman disease

A rare condition characterized by excessive production and accumulation of a particular white blood cell (histiocyte). Accumulation primarily occurs in the lymph nodes, especially in the neck, but may also occur in the skin, central nervous system, digestive tract and kidneys.

Rose Meyer

FPIES  Food Protien Induced Entercolitis Syndrome

This medical condition has just recently recieved a medical code, so hopefully it will be entered to this site soon. The condition can be present at birth or appear at a later time. It is a Non IGE reaction to foods and perhaps enviromental smells. Some children will react to simply the scent of certain foods cooking.  I am the Grand Aunt of Michael who was born with severe reactions to ALL foods. The reactions are typically delayed two to four hours after ingestion. Most sufferes have found several foods that are 'safe' for them. Many children will outgrow the condition. Sadly most have gone from Doctor to Doctor for years in search of a diagnosis. Hopefully with receiving a code children and their families will now be able to find a Doctor who recognises the condition and help ease the pain and frustration this condition creates. I highly recommend you visit the FPIES site on google for more detailed info.

Rotor syndrome

A rare condition that starts soon after birth or during childhood and is characterized by high blood bilirubin levels.

Rowley-Rosenberg syndrome

A rare disorder characterized by very short stature, cor-pulmonale (failure of the right side of the heart) and excess amino acids in the urine due to kidney dysfunction.

Rozin Hertz Goodman syndrome

A rare genetic disorder characterized by joint contractures, drooping eyelids, spinal curvature and permanently bent fingers (camptodactyly).

Rubella

A contagious viral infection caused by the Rubella virus which produces a rash and lymph node swelling. It can have serious implication in pregnant women as the virus can be transmitted through the placenta and cause serious fetal defects or even fetal death.

Rubella virus antenatal infection

A rare disorder caused by exposure of the fetus to maternal rubella and resulting in a range of abnormalities and fetal death is also possible.

Rubella- congenital

Congenital rubella is a group of physical problems that occur in an infant when its mother is infected with the virus that causes German measles.

Rubinstein Taybi like syndrome

Rubinstein-Taybi syndrome is a genetic disease characterized by broad thumbs and toes, short stature, distinctive facial features, and varying degreess of mental retardation.

Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome is a genetic disease characterized by broad thumbs and toes, short stature, distinctive facial features, and varying degreess of mental retardation.

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).