Rare Oncology News
Advertisement
Spastic paraplegia 5A
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100986 Definition Autosomal recessive spastic paraplegia type 5A is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes…
Grover’s disease
Grover’s disease is a skin condition that causes the appearance of small, red spots. These spots usually develop on the chest or back, but may also form on other parts of the body. This condition frequently leads to intense itching, although it may cause no symptoms. Most cases last six to twelve months. Occasionally, this condition may persist for…
Hemorrhagic shock and encephalopathy syndrome
Hemorrhagic shock and encephalopathy syndrome (HSES) is a rare disease that occurs suddenly in previously healthy children. This condition is characterized by severe shock, impairment of the blood’s ability to clot (coagulopathy), abnormal brain function or structure (encephalopathy), and liver and kidney dysfunction. Most cases of HSES occur in infants from age 3 to 8 months of age,…
Bazex-Dupre-Christol syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 113 Definition Bazex-Dupré-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas. Epidemiology So far, 143 cases have been reported, mostly from France and Belgium. Clinical description The disease manifests during…
Lymphocytic infiltrate of Jessner
Lymphocytic infiltrate of Jessner is a skin condition characterized by small, red, bumps on the face, neck, and upper back.[1][2] The bumps usually last for several months or longer and can enlarge to create a red plaque.[2] Typically, there are no other symptoms, although rarely, individuals may experience burning or itching. The symptoms may fluctuate between periods of worsening and periods…
Geographic tongue
Geographic tongue is a condition that causes chronic and recurrent lesions on the tongue that resemble psoriasis of the skin. It is characterized by pink to red, slightly depressed lesions with irregular, elevated, white or yellow borders. The lesions may also occur in the mucosa of the mouth and labia; this condition is called “areata…
Early-onset parkinsonism-intellectual disability syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2379 Definition Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus…
Primary Familial Brain Calcification
Primary familial brain calcification (PFBC) is a neurodegenerative disorder characterized by calcium deposits in the basal ganglia, a part of the brain that helps start and control movement. The first symptoms often include clumsiness, fatigue, unsteady walking (gait), slow or slurred speech, difficulty swallowing (dysphagia) and dementia. Migraines and seizures frequently occur. Symptoms typically start in an…
Kowarski syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 629 Definition Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of…
Bohring-Opitz syndrome
Bohring-Opitz syndrome is a rare genetic condition characterized by intrauterine growth restriction (IUGR), failure to thrive, sleep apnea, developmental delay, hypotonia, flexion of the elbows and wrists, excessive hair growth, Wilm’s tumor, microcephaly, brain malformations, and distinctive facial features. The condition is caused by mutations in the ASXL1 gene.[1][2] The inheritance of Bohring-Opitz syndrome remains unknown, as nearly all cases…
Lyme disease
Lyme disease is the most common tickborne infectious disease in the United States. Early signs and symptoms of the condition include fever, chills, muscle pain, headache, and joint pain. As the condition progresses, affected people may experience heart problems, Bell’s palsy, arthritis, abnormal muscle movement, speech problems and cognitive (thinking) abnormalities. Please visit the Center…
Immune defect due to absence of thymus
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 83471 Definition A rare primary immunodeficiency with autosomal or X-linked recessive inheritance, characterized by atrophy of the thymus in the absence of other congenital abnormalities, with profound Tcell deficiency, while serum immunoglobulin levels are normal…
Cleidorhizomelic syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1453 Definition Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray…
Inflammatory myofibroblastic tumor
An inflammatory myofibroblastic tumor (IMT) is an uncommon, usually benign (non-cancerous) tumor made up of cells called myofibroblastic spindle cells. It usually develops in children or young adults, but can affect people of any age. An IMT can occur in almost any part of the body but is most commonly found in the lung, orbit…
Brittle cornea syndrome
Brittle cornea syndrome (BCS) is a genetic disease involving the connective tissue in the eyes, ears, joints, and skin. The symptoms of BCS typically involve thinning of the protective outer layer of the eye (cornea), which may lead to tearing or rupture after minor damage to the cornea. Other eye symptoms may include nearsightedness (myopia), a…
Whipple disease
Whipple disease is an infectious bacterial disease that affects many different organ systems and interferes with the body’s ability to process (metabolize) fats.[1] The disease usually occurs in the gastrointestinal system, but may affect any part of the body including the heart, lungs, brain, joints, and eyes.[2] In the gastrointestinal system, it interferes with the body’s ability to…
Bronchiolitis obliterans
Bronchiolitis obliterans is an inflammatory condition that affects the lung’s tiniest airways, the bronchioles. In affected people, the bronchioles may become damaged and inflamed leading to extensive scarring that blocks the airways. Signs and symptoms of the condition include a dry cough; shortness of breath; and/or fatigue and wheezing in the absence of a cold…
Johanson-Blizzard syndrome
Johanson-Blizzard syndrome (JBS) is a very rare condition that affects multiple parts of the body. The severity, signs and symptoms of JBS may vary among affected individuals. Many symptoms are present at birth or early childhood. Characteristic features include intestinal malabsorption of fats and other nutrients due to abnormal development of the pancreas (pancreatic insufficiency);…
Rheumatoid factor-negative juvenile idiopathic arthritis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85408 Definition Rheumatoid factor-negative polyarthritis is a term used to describe a group of poorly defined heterogenous conditions that incorporates forms of rheumatoid factor-negative polyarthritis and forms of oligoarticular arthritis that become extensive in less…
SCOT deficiency
SCOT deficiency is a metabolic disease that is caused by reduced or missing levels of an enzyme called succinyl-CoA:3-ketoacid CoA transferase (SCOT). This enzyme is necessary for the body to use ketones. Ketones are substances produced in the liver when fats are broken down. Ketones are an important source of energy, especially when there is a shortage of carbohydrates (sugar). SCOT deficiency…
Lactate dehydrogenase B deficiency
Lactate dehydrogenase B deficiency (LDHBD) is a condition that affects how the body breaks down sugar to use as energy in muscle cells. Unlike people with lactate dehydrogenase A deficiency, people with this condition typically do not have any signs or symptoms. It is unclear why this condition does not cause any health problems. Affected…
Uterine Carcinosarcoma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 213610 Definition Carcinosarcoma of the corpus uteri is a rare, malignant, mixed epithelial and mesenchymal tumor of the uterine body composed of high-grade carcinomatous and sarcomatous elements. It may present with vaginal bleeding, abnormal vaginal…
Lenz microphthalmia syndrome
Lenz microphthalmia syndrome is one of a group of genetic disorders known as syndromic microphthalmia. These conditions involve abnormal development of the eyes and several other parts of the body. Eye symptoms may include underdeveloped (small)or absent eyes, clouding of the lens (cataracts), uncontrolled eye movements (nystagmus),a gap or split in structures that make up…
Cri du chat syndrome
Cri du chat syndrome is present from birth and affects growth and development. Infants with this condition often have a high-pitched cat-like cry, small head size, and a characteristic facial appearance. They may have trouble breathing and feeding difficulties. People with this condition typically have intellectual disability, developmental and speech delay, and behavioral issues. Cri du…
Lewis-Sumner syndrome
Lewis-Sumner syndrome (also known as multifocal acquired demyelinating sensory and motor neuropathy) is a neurological condition affecting primarily the arms and hands (upper limbs). The symptoms are a result of inflammation of the nerves leading to the upper body and the destruction of the fatty covering that protects the nerves (myelin sheath). Lewis Sumner syndrome…
Corneal dystrophy of Bowman layer type 1
empty
Lujan syndrome
Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and poor muscle tone (hypotonia). Affected people also tend to have characteristic physical features such as a tall and thin body; a large head (macrocephaly); and a thin face with distinctive facial features (prominent top of the nose, short space between the nose and…
PEPCK 1 deficiency
PEPCK1 deficiency is a rare inborn error of metabolism disorder, characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids).[1][2] The symptoms described in the few cases reported in the medical literature suggest that…
Roussy Levy syndrome
Roussy Levy syndrome is a term used to describe a neuromuscular disorder that typically becomes apparent during early childhood. This syndrome is considered a form of Charcot-Marie-Tooth (CMT) disease. Individuals with this disorder have clinical symptoms similar to Charcot-Marie-Tooth (CMT) disease type 1, which is characterized by muscle weakness and atrophy, poor judgement of movement (sensory…
Pseudohypoparathyroidism type 2
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 94090 Definition Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright’s hereditary…
Microphthalmia syndromic 8
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3434 Definition The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation (SHFM; see this term). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported….
Pityriasis rotunda
Pityriasis rotunda is a rare skin disease characterized by round, scaly, pigmented patches that mainly occur on the trunk, arms and legs. There are two types of pityriasis rotunda. Type 1 is seen mainly in East/Southeast Asian and South African individuals older than 60 years, and is often associated with internal disease or malignancy (cancer). Type…
Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) affects many parts of the body, particularly the brain and nervous system (encephalo-) and muscles (myopathy). Symptoms typically begin in childhood and may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. People…
Say-Field-Coldwell syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3133 Definition Say-Field-Coldwell syndrome is characterised by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters. Visit the Orphanet disease…
Microcornea posterior megalolenticonus persistent fetal vasculature coloboma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 231736 Definition Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome is a rare developmental defect of the eye characterized by bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature (extending from the posterior pole of the lens to the optic…
Chromosome 17p13.1 deletion syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 319171 Definition Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure…
Protein S deficiency
Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding. Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting. When protein S is missing (deficient), clotting may not be…
Multicentric osteolysis, nodulosis and arthropathy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 371428 Definition A rare systemic or rheumatologic disease characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations. Epidemiology Multicentric osteolysis-nodulosis-arthropathy…
Ring chromosome 3
empty
Syndactyly type 9
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 157801 Definition Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated…
Chromosome 6q25 microdeletion syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 251056 Definition 6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss. Epidemiology It has been clinically and molecularly characterized in 4 patients. Clinical description All of them…
Rosette-Forming Glioneuronal Tumor
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 251975 Definition Rosette-forming glioneuronal tumor is a rare mixed neuronal-glial tumor characterized by the presence of uniform, rosette(or pseudorosette-) forming neurocytes with an astrocytic component, together creating a biphasic pattern. It can present with signs…
Muscular dystrophy, congenital, merosin-positive
The congenital muscle dystrophies are currently classified according to the genetic defects. Historically, congenital muscular dystrophies were classified in two broad groups: Classic CMD (which included the Merosin-deficient CMD and the Merosin-positive CMD) and the CMD with central nervous system (CNS) abnormalities (Fukuyama CMD, muscle-eye-brain disease and Walker-Warburg syndrome). Therefore, merosin-positive congenital muscle dystrophy (CMD)…
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 70595 Definition Sensory ataxic neuropathydysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia. Epidemiology The prevalence is unknown. Clinical description Other common features include progressive gait unsteadiness, absent…
Non 24 hour sleep wake disorder
Non 24 hour sleep wake disorder refers to a steady pattern of oneto two-hour delays in sleep onset and wake times in people with normal living conditions. This occurs because the period of the person’s sleep-wake cycle is longer than 24 hours. The condition most commonly affects people who are blind, due to an impaired…
Spinocerebellar ataxia 40
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 423275 Definition Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular…
Neuroendocrine tumor
A neuroendocrine tumor (NET) is a rare type of tumor that arises from specialized body cells called neuroendocrine cells. These cells have traits of both nerve cells and hormone-producing cells, and release hormones into the blood in response to signals from the nervous system.[1][2] Because a neuroendocrine tumor arises from cells that produce hormones, the…
Hemochromatosis type 1
Hemochromatosis type 1 is a disease in which too much iron builds up in the body. This is also called iron overload. Accumulation of iron in the organs is toxic and can cause organ damage. While many organs can be affected, iron overload is especially likely to affect the liver, heart, and pancreas. Early symptoms…
Spondyloepimetaphyseal dysplasia, Aggrecan type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 171866 Definition Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings. Epidemiology To date, three cases have been described, all originating from…
Nodding syndrome
Nodding syndrome is a rare form of epilepsy that occurs in children between the ages of 5 and 16. It is seen almost exclusively in children living in specific regions of Tanzania, Uganda and the Republic of South Sudan. Signs and symptoms of the condition include head nodding, seizures, stunted growth, and deterioration of cognitive…
Microphthalmia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2542 Definition A non-syndromic group of structural developmental eye defects characterized by the variable combination of microphthalmia, ocular coloboma, and anophthalmia, either unilaterally or bilaterally, with no other associated ocular conditions in the affected/contralateral eye,…
Oculodentodigital dysplasia
Oculodentodigital dysplasia is a condition that affects many parts of the body, including the eyes (oculo-), teeth (dento-), and fingers (digital). Symptoms of the condition include having small eyes, vision loss, missing teeth, frequent cavities, and bony growths in the fingers. The condition is caused by a mutation in GJA1 and is most typically inherited…
COASY Protein-Associated Neurodegeneration
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 397725 Definition COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria,…
Tetramelic monodactyly
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2564 Definition Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the…
Osteogenesis imperfecta type VI
Osteogenesis imperfecta type 6 is a form of osteogenesis imperfecta which results in weakened bones that breaks easily. When viewed under a microscope, bone tissue has a distinct “fish-scale” pattern. Individuals with osteogenesis imperfecta type 6 appear to be healthy at birth and do not have fractures until after 6 months of age. Osteogenesis imperfecta type 6…
Spondylometaphyseal dysplasia corner fracture type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93315 Definition Spondylometaphyseal dysplasia, ‘corner fracture’ type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated ‘corner fractures’ of long tubular bones and vertebral body abnormalities (mostly oval vertebral…
Phacomatosis pigmentokeratotica
empty
Cytochrome c oxidase deficiency
Cytochrome C oxidase deficiency (COX deficiency) is a condition that can affect several parts of the body including the skeletal muscles, heart, brain and liver. There are four types of COX deficiency differentiated by symptoms and age of onset: benign infantile mitochondrial type, French-Canadian type, infantile mitochondrial myopathy type, and Leigh syndrome.[1] The range and…
Trichorhinophalangeal syndrome type 3
Trichorhinophalangeal syndrome type 3 (TRPS3), also known as Sugio-Kajii syndrome, is an extremely rare inherited multisystem disorder.[1] TRPS3 is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly).[2][3] The range and severity of symptoms may vary from case…
Otofaciocervical syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2792 Definition Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and…
Papillary glioneuronal tumors
Papillary glioneuronal tumors (GNTs) are rare tumors. They may occur in any age (4–75 years), but are more common in young patients.[1] Symptoms may include seizures, headaches, bleedings, and focal neurological deficits, impairing specific and small parts of the body.[1][2] According to the 2016 WHO classification of CNS tumors the papillary GNTs are considered WHO…
Hereditary folate malabsorption
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 90045 Definition Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis,…
Pearson syndrome
Pearson syndrome affects many parts of the body but especially the bone marrow and the pancreas. Pearson syndrome affects the cells in the bone marrow (hematopoietic stem cells) that produce red blood cells, white blood cells, and platelets. Having too few red blood cells (anemia), white blood cells (neutropenia), or platelets (thrombocytopenia) can cause a…
Glutamine deficiency, congenital
empty
Xanthinuria type 2
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93602 Definition Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the deficiency of both xanthine dehydrogenase and aldehyde…
Costocoracoid ligament congenitally short
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2391 Definition Congenital shortness of the costocoracoid ligament is a rare anomaly characterized by fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of…
Primary hyperaldosteronism
Primary hyperaldosteronism is a disorder caused by excess production of the hormone aldosterone by the adrenal glands. The main symptom of primary hyperaldosteronism is high blood pressure (hypertension), but other symptoms may include headaches, weakness, swelling (edema), and muscle spasms (tetany). The cause of primary hyperaldosteronism can vary. One cause may be an adenoma, or…
Rare Oncology News