Diseases

Recessive Dystrophic Epidermolysis Bullosa

The disease manifests at birth or shortly thereafter with generalized blistering and superficial erosions of intermediate severity that heal with atrophic scarring and milia formation. From adolescence to early adulthood, blistering tends to localize to folds, particularly axillae, groin, perianal area and natal cleft. Women may present with marked vulvovaginal and inframammary skin blistering. Other predilection sites include the base of the neck, the uppermost back, and the lumbosacral area. Nail dystrophy is typical but of variable severity. Mucosal lesions with blistering and scarring in the mouth are characteristic and can lead to microglossia (loss of lingual papillae and fusion of the tongue to the mouth floor) and ankyloglossia (obliteration of the oral vestibules and progressive restriction of oral aperture). Esophageal involvement is often severe and is associated with a risk of esophageal stricture that can impair intake of nutrients. Lesions of the lowermost portion of the genitourinary tract are also common and may lead to the development of vaginal strictures that may impair normal sexual function. Other less common extracutaneous features include external auditory canal stenosis or complete occlusion with varying degrees of hearing loss; corneal erosions, and anemia. Growth delay is rare. Patients may develop squamous cell carcinomas, with a cumulative risk reaching 23% by age 50 which is much lower than in either of the two generalized forms of RDEB (severe RDEB and intermediate RDEB).

Rectal neoplasm

Rectal neoplasm, also called colon cancer or large bowel cancer, includes cancerous growths in the colon, rectum and appendix. With 655,000 deaths worldwide per year, it is the third most common form of cancer and the second leading cause of cancer-related death in the Western world.[1] Many colorectal cancers are thought to arise from adenomatous polyps in the colon. These mushroom-like growths are usually benign, but some may develop into cancer over time. The majority of the time, the diagnosis of localized colon cancer is through colonoscopy. Therapy is usually through surgery, which in many cases is followed by chemotherapy.

Rectosigmoid neoplasm

A tumor that originates in the upper rectal area or sigmoid colon. The tumor may be benign or cancerous.

Recurrent peripheral facial palsy

Differentiate supranuclear facial palsy from peripheral (nuclear) facial palsy. Supranuclear palsy involves predominantly the lower part of the face. Emotional responses may be intact (e.g., the patient may not be able to show you his teeth but will smile in response to a joke). Peripheral, or nuclear facial, palsy affects all ipsilateral muscles of facial expression, resulting in paralysis of the entire ipsilateral side. The mouth is pulled at an angle to the normal side and may droop on the affected side, facial creases are effaced, and the eyelid may not close.

Recurrent respiratory papillomatosis

Recurrent respiratory papillomatosis is a rare viral disease where tumors (papillomas) grow in the air passages leading from the nose and mouth into the lungs (respiratory tract). Although the tumors can grow anywhere in the respiratory tract, their presence in the larynx (voice box) causes the most frequent problems, a condition called laryngeal papillomatosis. The tumors may vary in size and grow very quickly. They often grow back even when removed. RRP is caused by two types of human papillomavirus (HPV), called HPV 6 and HPV 11. These tumors can recur frequently, may require repetitive surgery, and may interfere with breathing. The disease can be treated with surgery and antivirals.

Red cell phospholipid defect with hemolysis

A rare inherited blood disorder where the membranes of red blood cells are defective and the cells are at risk of being destroyed easily if exposed to certain drugs or possibly even viruses.

Reed’s syndrome

Reed’s syndrome (also known as Hereditary leiomyomatosis and renal cell cancer (HLRCC), multiple cutaneous leiomyomatosis (MCL) or multiple cutaneous and uterine leiomyomatosis (MCUL)) is a disorder in which affected individuals tend to develop benign tumors containing smooth muscle tissue (leiomyomas) in the skin and, in females, the uterus. This condition also increases the risk of kidney cancer.

 

Source: Genetics Home Reference 

Reflex sympathetic dystrophy syndrome

Reflex sympathetic (REE-flecks SIM-pah-theh-tick) dystrophy syndrome, or RSDS for short, involves a disturbance in the sympathetic nervous system which is the network of nerves located alongside the spinal cord and controls certain bodily functions, such as opening and closing blood vessels or sweat glands. It primarily affects the hands and feet.

Refractory anemia

A bone marrow disease which results in insufficient red blood cells in the blood (anemia). The prognosis is poor with death usually occurring within a couple of years. Type 1 refers to cases where the level of blasts is less than 10% and type 2 refers to cases where the level of blasts is 10-20%. When too many immature blood cells (blasts) are produced by the bone marrow, the condition may progress to acute myeloid leukemia - occurs in about a third of cases in type 2.

Refsum disease

Refsum disease is an extremely rare and complex disorder that affects many parts of the body. A form of the retinal degenerative disease known as retinitis pigmentosa (RP) is a common feature of this disease.Individuals with Refsum disease are unable to metabolize phytanic acid. As a result, high levels of phytanic acid accumulate in blood and tissue. It is thought that disorders associated with this disease result from harmful levels of phytanic acid. Phytanic acid is found in meat, fish, and dairy products. The body also converts phytol, a substance found in green leafy vegetables, to phytanic acid.

Refsum disease with increased pipecolic acidemia

A rare disorder involving all the clinical features of Refsum disease as well as high blood levels of L-pipecolic acid. Refsum disease is a metabolic disorder where a deficiency of phytanic acid alpha-hydroxylase results in a buildup of phytanic acid in the body which causes neurological disorders.

Refsum disease- infantile form

A rare inherited biochemical disorder characterized by normal development initially followed by degeneration, facial anomalies and enlarged liver.

Reiter’s Syndrome

Reiter’s Syndrome refers to a group of disorders which include conjuntivitis, painful joints, and urinary tract infection. Other disorders included are ankylosing spondylitis, psoriatic arthritis, and inflammatory bowel syndrome arthritis. It is also known as reactive arthritis. This is because arthritis results from the infection at another part of the body. Another name for Reiter’s syndrome is seronegative spondyloarthropathy. This is because it causes inflammations at the joints.

Relapsing Polychondritis

Relapsing polychondritis (RP) is a rare disorder and the aetiology remains unknown. It is often associated with autoimmune disorders, and the presence of antibodies to type II collagen suggests that it may be immunologically mediated. Between 25% and 35% of patients have other autoimmune diseases too.1

The term 'relapsing polychondritis' (RP) was first used in 19602 to describe a very rare disease which is characterised by recurrent episodes of inflammation of cartilaginous structures and other connective tissues, which may involve many organs. It can involve all types of cartilage including that of joints, tracheo-bronchial tree, ear and nose and connective tissues rich in proteoglycans, such as in the heart, eye, blood vessels and inner ear.3 (Copied from Patient.co.uk)

Renal adysplasia dminant type

An inherited disrder f kidney develpment where either ne kidney fails tdevelp nrmally, ne kidney is absent, ne kidney fails tdevelp nrmally and ne kidney is absent r bth kidneys are absent. Severity f the cnditin is highly variable: if there is ne nrmal kidney the cnditin can be asymptmatic but if bth kidneys are absent then the cnditin is lethal. Mre detailed infrmatin abut the symptms, causes, and treatments f Renal adysplasia dminant type is available belw.

Renal agenesis meningmyelcele mullerian defect

A Renal Agenesis Meningmyelcele Mullerian Defect annymus supprt grup with infrmatin n diagnsis, treatment, symptms, alng with persnal stries and experiences with Renal Agenesis Meningmyelcele Mullerian Defect. Yu're nt alne.

Renal artery stenosis

Renal artery stenosis is the narrowing of the renal artery, most often caused by atherosclerosis or fibromuscular dysplasia. This narrowing of the renal artery can impede blood flow of the target kidney. Hypertension and atrophy of the affected kidney may result from renal artery stenosis, ultimately leading to renal failure if not treated.

Renal caliceal diverticuli deafness

Renal caliceal diverticuli - deafness: A very rare syndrme characterized mainly by deafness and urinary tract and kidney anmalies. Mre detailed infrmatin abut the symptms, causes, and treatments f Renal caliceal diverticuli - deafness is available belw.

Renal cancer

Renal cancer is cancer that originates in the kidneys. The two most common types of kidney cancer are renal cell carcinoma (RCC) and transitional cell carcinoma (TCC, also known as urothelial cell carcinoma) of the renal pelvis. These names reflect the type of cell from which the cancer developed. The different types of kidney cancer (such as RCC and UCC) develop in different ways, meaning that the diseases have different long term outcomes, and need to be staged and treated in different ways. RCC is responsible for approximately 80% of primary renal cancers, and UCC accounts the majority of the remainder.

In adults, the most common type of kidney cancer is renal cell carcinoma. Other less common types of kidney cancer can occur. Young children are more likely to develop a kind of kidney cancer called Wilms' tumor.

Renal cell carcinoma

Renal cell carcinoma (also known as, RCC, hypernephroma, renal cancer) is the most common from of kidney cancer arising frm the prximal renal tubule. It is the most common type of kidney cancer in adults. Initial treatment is most commonly a radical or partial nephrectmy. Where the tumur is confined to the renal parenchyma, the 5-year survival rate is 60-70%, but this is lowered considerably where metastases have spread. It is resistant tradiatin therapy and chemtherapy, although some cases respond timmuntherapy. Targeted cancer therapies such as sunitinib, temsirlimus, bevacizumab, interfern-alpha, and possibly srafenib have improved the utlk for RCC (progressin-free survival), although they have not yet demonstrated improved survival.

Renal cysts and diabetes syndrome

The 'renal cysts and diabetes syndrome' is an autsmal dminant disrder cmprising (1) nndiabetic renal disease resulting frm abnrmal renal develpment, and (2) diabetes, which in sme cases ccurs earlier than age 25 years and is thus cnsistent with a diagnsis f maturity-nset diabetes f the yung (MDY). The renal disease is highly variable and includes renal cysts, glmerular tufts, aberrant nephrgenesis, primitive tubules, irregular cllecting systems, ligmeganephrnia, enlarged renal pelves, abnrmal calyces, small kidney, single kidney, hrseshe kidney, and hyperuricemic nephrpathy. Affected individuals may alshave abnrmalities f the genital tract,

Renal dysplasia – limb defects syndrome

Renal dysplasia-limb defects syndrome (RL syndrome), alsknwn as Ulbright Hdes syndrome is a very rare[1] syndrome. The syndrome has been described in three infants, all f whm died shrtly after birth.[2] It is a cngenital syndrome[3] and is believed tfllw a autsmal recessive pattern f inheritance.

Renal dysplasia diffuse autsmal recessive

Renal dysplasia diffuse autsmal recessive is the mst cmmn heritable cystic renal disease ccurring in infancy and childhd. It is distinct frm autsmal dminant plycystic kidney disease (ADPKD), which tends tccur in an lder ppulatin. The clinical spectrum shws a wide variability, ranging frm perinatal death ta milder prgressive frm, which may nt be diagnsed until adlescence.

Renal dysplasia diffuse cystic

Diffuse cystic renal dysplasia (medical cnditin): Abnrmal kidney develpment characterized by the presence f numerus cysts thrughut the kidneys. In the reprted cases, death ccurs sn after birth.

Renal dysplasia limb defects

Renal dysplasia - limb defects syndrme: A very rare syndrme characterized mainly by abnrmal kidney develpment and varius arm bne defects. Mre detailed infrmatin abut the symptms, causes, and treatments f Renal dysplasia - limb defects syndrme is available belw.

Renal dysplasia megalcystis sirenmelia

A Renal Dysplasia Megalcystis Sirenmelia annymus supprt grup with infrmatin n diagnsis, treatment, symptms, alng with persnal stries and experiences with Renal Dysplasia Megalcystis Sirenmelia