A rare genetic disorder involving abnormal development of bones due to a particular enzyme deficiency (glyceronephosphate O-Acyl transferase). The bones have abnormal calcification of bones near the joints. The genetic defect is located on chromosome 1q42.
A rare genetic disorder involving abnormal development of bones due to a particular enzyme deficiency (alkyldihydroxyacetonephosphate synthase). The bones have abnormal calcification of bones near the joints. The genetic defect is located on chromosome 2q31.
A very rare syndrome characterized mainly by short upper arm and thigh bones.
A very rare syndrome characterized by an eye disorder, scoliosis and other skeletal abnormalities.
A rare condition which tends to cause muscle pain and stiffness in the neck, shoulder and hip area
A very rare syndrome characterized mainly by short upper arm and thigh bones. Death frequently occurs in early childhood.
A rare syndrome characterized by eye, kidney and skeletal abnormalities as well as hypopituitarism.
A rare disorder primarily involving abnormal development of bone tissue inside parts of some long bones - particularly in the lower legs.
A very rare syndrome characterized mainly by mental retardation, ataxia, deafness and ketoaciduria.
A very rare syndrome characterized mainly by mental retardation, skeletal anomalies and delayed muscle relaxation .
A very rare syndrome characterized mainly by eyelid, facial and skeletal abnormalities.
A very rare syndrome characterized mainly by mental retardation, short stature, cleft lip/palate and eye anomalies.
A very rare syndrome characterized by a cleft palate, genital anomalies, retarded growth, heart defect and a hand abnormality.
A very rare syndrome characterized mainly by short stature, hand anomaly, clubfoot a cleft palate and various other abnormalities.
Richieri costa colletto otto syndrome (medical condition): A rare genetic disorder characterized by short stature, short fingers and toes and facial anomalies
A very rare syndrome characterized mainly by premature fusion of skull bones, facial anomalies and various other abnormalities
A rare but serious form of acute adult leukemia. The disease occurs when chronic lymphocytic leukemia transforms into diffuse large cell lymphoma which is a fast-growing form of lymphoma. The condition tends to be more common in older adults.
Rickets is a softening of bones in children potentially leading to fractures and deformity. Rickets is among the most frequent childhood diseases in many developing countries. The predominant cause is a vitamin D deficiency, but lack of adequate calcium in the diet may also lead to rickets (cases of severe diarrhoea and vomiting may be the cause of the deficiency). Although it can occur in adults, the majority of cases occur in children suffering from severe malnutrition, usually resulting from famine or starvation during the early stages of childhood. Osteomalacia is the term used to describe a similar condition occurring in adults, generally due to a deficiency of vitamin D. The origin of the word "rickets" is probably from the Old English dialect word 'wrickken', to twist. The Greek derived word "rachitis" (meaning "inflammation of the spine") was later adopted as the scientific term for rickets, due chiefly to the words' similarity in sound. In many languages it is known as "English disease".
Rickettsia is a genus of motile, Gram-negative, non-sporeforming, highly pleomorphic bacteria that can present as cocci (0.1 μm in diameter), rods (1-4 μm long) or thread-like (10 μm long). Obligate intracellular parasites, the Rickettsia depend on entry, growth, and replication within the cytoplasm of eukaryotic host cells (typically endothelial cells). Because of this, Rickettsia cannot live in artificial nutrient environments and are grown either in tissue or embryo cultures (typically, chicken embryos are used). In the past they were regarded as microorganisms positioned somewhere between viruses and true bacteria. The majority of Rickettsia bacteria are susceptible to antibiotics of the tetracycline group. Rickettsia species are carried as parasites by many ticks, fleas, and lice, and cause diseases such as typhus, rickettsialpox, Boutonneuse fever, African Tick Bite Fever, Rocky Mountain spotted fever, Australian Tick Typhus, Flinders Island Spotted Fever and Queensland Tick Typhus [2] in human beings. They have also been associated with a range of plant diseases. Like viruses, they only grow inside living cells. The name rickettsia is often used for any member of the Rickettsiales. They are thought to be the closest living relatives to bacteria that were the origin of the mitochondria organelle that exists inside most eukaryotic cells.
A disease caused by infection with rickettsial bacteria which are transmitted by arthropods such as ticks, mites and lice. Different rickettsial bacteria can cause different types of infections such as typhus, spotted fever and trench fever. Symptoms can vary somewhat between the different types.
A rare genetic disorder characterized by underdeveloped or absent teeth and craniofacial and eye abnormalities.
Specialists recognize two genetic forms of Rieger syndrome. Type I occurs as a result of mutations on chromosome 4 and Type II results from mutations on chromosome 13.
A rare disorder where abnormal development of the front portion of the eye causes glaucoma and impaired vision. Other abnormalities are also present.
Right atrium familial dilatation (medical condition): An inherited heart abnormality where the right atrium is dilated.
An underdeveloped right heart ventricle which is smaller than normal and is thus less able to pump blood efficiently to the lungs. The age at which the symptoms become apparent varies depending on the severity of the defect.
A muscle wasting disorder mainly involving the muscles in the arms, legs, face, neck, spine and heart. Symptoms generally only occur in males but female carriers may have some symptoms.
Ring chromosome 14 syndrome (ring 14, ring 14 syndrome, ring chromosome 14) is a very rare human chromosome abnormality. It occurs when one or both of the telomeres that mark the ends of chromosome 14 are lost allowing the now uncapped ends to fuse together forming a ring chromosome. It causes a number of serious health issues, most notably recurrent treatment-resistant seizures and intellectual disability.
A rare eye disorder which results in the appearance of a dark ring around the cornea.
"Ringed hair" is a peculiar disease in which the hair seems banded by alternating segments of light and dark color when seen in reflected light.
A rare dominantly inherited disorder involving skeletal muscle contractions which produces a visible rippling affect.