Rippling muscle disease- 1
Rippling muscle disease, 1: A rare dominantly inherited disorder involving skeletal muscle contractions which produces a visible rippling affect. Type 1 involves a defect on chromosome 1q41.
Diseases
Roberts Syndrome
Roberts syndrome is an extremely rare genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs.
The Syndrome is both autosomal, in that there are equal numbers of copies of the gene in both males and females, and recessive, meaning the child must inherit the defective gene from both parents. The mutation causes cell division to occur slowly or unevenly, and the cells with abnormal genetic content die. Roberts syndrome can affect both males and females. Although the disorder is rare, the affected group is diverse. The mortality rate is high in severely affected individuals.
Robin sequence and oligodactyly
A very rare syndrome characterized mainly by missing fingers, small jaw, tonge anomaly and a cleft palate.
Robinow Sorauf syndrome
Robinow Sorauf syndrome is a rare disorder characterized by facial and dental abnormalities as well as a partial or complete duplication of the end bone of the big toe.
Robinow syndrome- autosomal recessive
A rare genetic disorder characterized by a flat face, short forearms, vertebral anomalies and hypoplastic genitalia.
Robinson Miller Bensimon syndrome
A very rare syndrome characterized by deafness, malformed nails and other abnormalities.
Roch-Leri mesosomatous lipomatosis
A rare inherited disorder characterized by the development of many small lipomas. The lipomas are present mainly on the trunk, upper thighs and forearms. They are generally harmless though sometimes painful and can be removed surgically.
Rocky Mountain spotted fever
Rocky Mountain spotted fever is the most lethal and most frequently reported rickettsial illness in the United States. It has been diagnosed throughout the Americas. Some synonyms for Rocky Mountain spotted fever in other countries include “tick typhus,” “Tobia fever” (Colombia), “São Paulo fever” or “febre maculosa” (Brazil), and “fiebre manchada” (Mexico). It should not be confused with the viral tick-borne infection, Colorado tick fever. The disease is caused by Rickettsia rickettsii, a species of bacterium that is spread to humans by ixodid (hard) ticks. Initial signs and symptoms of the disease include sudden onset of fever, headache, and muscle pain, followed by development of rash. The disease can be difficult to diagnose in the early stages, and without prompt and appropriate treatment it can be fatal
Rod myopathy
one of a group of diseases that cause problems with the tone and contraction of skeletal muscles
Rodini Richieri Costa syndrome
A rare genetic disorder characterized primarily by dental symptoms, opening in the roof of the mouth (cleft palate) and missing fingers giving the hands a claw like appearance.
Rodrigues blindness
A rare disorder characterized by severe eye malformations, short stature and hair and dental anomalies.
Roifman syndrome
A rare syndrome characterized by abnormal bone growth, immune deficiency and an eye disorder.
Rokitansky Kuster Hauser syndrome
A rare condition characterized by absence of the vagina and uterine abnormalities.
Rokitansky sequence
A very rare syndrome characterized mainly by the absence of various internal reproductive structures.
Rokitansky-Aschoff sinuses of the gallbladder
An abnormality of the gallbladder wall where small pouches of the mucus layer develop abnormal sinuses or spaces within that gallbladder lining.
Rombo syndrome
This hitherto unknown and dominantly inherited disorder is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis. It has been present in the family reported for at least four generations. The lesions become visible in late childhood and are most pronounced on the face. Basal cell carcinomas may develop around the age of 35. Histological observations during the early stage include irregularly distributed and atrophic hair follicles, milia, dilated dermal vessels, lack of elastin or elastin in clumps. After light irradiation a tendency to increased repair activity was observed both in epidermis and in the dermal fibroblasts. On exposure to cold the change in the skin temperature of the hands compared with that in the controls was insignificant. The response to adrenalin iontophoresis was weak.
Rommen Mueller Sybert syndrome
A very rare syndrome characterized mainly by heart defects, short stature and craniofacial anomalies.
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.
Rosenberg Chutorian syndrome
A very rare disorder involving eye, ear and nerve disorders.
Rotor syndrome
A rare condition that starts soon after birth or during childhood and is characterized by high blood bilirubin levels.
Roussy Levy hereditary areflexic dystasia
An inherited ataxia (incoordination) involving muscle wasting, kyphoscoliosis and absence of tendon reflexes.
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.
Roy Maroteaux Kremp syndrome
A very rare syndrome characterized mainly by skin lesions abnormal bone development and spastic paraplegia.
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.