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Ovarian sex cord tumor with annular tubules
An ovarian sex cord tumor with annular tubules (SCTAT) is a tumor that grows from cells in the ovaries known as sex cord cells. As these cells grow, they form tube-like shapes in the tumor.[1] SCTATs can develop in one or both ovaries, and may cause symptoms such as puberty at an exceptionally young age (precocious…
Cone-rod dystrophy 2
Cone-rod dystrophy 2 (CORD2) is an inherited eye disorder that affects the rod and cone cells in the retina. These cells process light and allow people to see the accurate shape and color of objects.[1] Initial signs and symptoms of CORD2 usually occur in early childhood or late adolescence and include decreased sharpness of vision (visual…
PARC syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2825 Definition PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further…
Congenital hepatic fibrosis
Congenital hepatic fibrosis is a rare disease of the liver that is present at birth. Symptoms include the following: a large liver, a large spleen, gastrointestinal bleeding caused by varices, increased pressure in the blood vessels that carry blood to the liver (portal hypertension), and scar tissue in the liver (fibrosis). Isolated congenital hepatic fibrosis is…
Congenital pulmonary alveolar proteinosis
Congenital pulmonary alveolar proteinosis is a rare form of respiratory failure that is present from birth.[1] In this condition, a substance made up of fat and protein (surfactant) builds up in the air sacs (alveoli) of the lungs, making breathing difficult.[1] Symptoms typically begin the newborn period and get worse over time. Congenital pulmonary alveolar proteinosis…
Congenital toxoplasmosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 858 Definition Congenital toxoplasmosis (CTX) is an embryo-fetopathy characterized by ocular, visceral or intracranial lesions secondary to maternal primo-infection by Toxoplasma gondii (Tg). Epidemiology Given its infectious origin, incidence of CTX is variable over time…
Rutherfurd syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2709 Definition Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped…
Leigh syndrome, French Canadian type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 70472 Definition Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development. Epidemiology…
Infantile neuronal ceroid lipofuscinosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79263 Definition Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and…
Hand and foot deformity with flat facies
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1927 Definition Emery-Nelson syndrome is a rare congenital limb malformation syndrome characterized by facial dysmorphism (high forehead, depressed nasal bridge, long philtrum, flat malar region, high arched palate), short stature and deformities of the hands…
Crystal arthropathies
Crystal arthropathies are a diverse group of bone diseases associated with the deposition of minerals within joints and the soft tissues around the joints. The group includes gout, basic calcium phosphate and calcium pyrophosphate dihydrate deposition diseases, and, in very rare cases, calcium oxalate crystal arthropathy which is a rare cause of arthritis characterized by…
Hashimoto’s syndrome
Hashimoto’s syndrome is an autoimmune disease in which a person’s immune system mistakenly attacks the thyroid gland, reducing its ability to produce hormones (hypothyroidism). Many people with Hashimoto’s syndrome have no symptoms at first.[1][2] An early sign of the syndrome may be enlargement of the thyroid (called a goiter), which can potentially interfere with breathing or swallowing….
Cystic medial necrosis of aorta
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 229 Definition Familial aortic dissection is the term used to describe rupture of the aortic wall at the level of the media, resulting in the formation of a false channel and deviation of part of…
Dandy-Walker malformation with postaxial polydactyly
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1566 Definition Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized…
Aarskog syndrome
Aarskog syndrome is an inherited disease that affects a person’s height, muscles, skeleton, genitals, and appearance of the face.[1] Intellectual development may also be affected. About 20 percent of people with Aarskog-Scott syndrome have mutations in the FGD1 gene. The cause in other affected individuals is unknown. The condition is inherited in an X-linked recessive pattern.[1][2]
Septo-optic dysplasia spectrum
Septo-optic dysplasia is a disorder of early brain and eye development. The most common features are underdevelopment (hypoplasia) of the eye (optic) nerve, abnormal formation of structures along the midline of the brain such as the absence of the septum pellucidum and the corpus callosum, and a small pituitary (pituitary hypoplasia). Signs and symptoms may…
Abdominal cystic lymphangioma
Abdominal cystic lymphangioma is a benign (noncancerous) malformation of the lymphatic vessels in the abdomen. These vessels carry lymph, a fluid that contains white blood cells that fight infection, throughout the body. The severity of the condition and the associated features vary from person to person. When present, signs and symptoms may include abdominal pain, an…
Fountain syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3219 Definition Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. Epidemiology The syndrome is exceedingly rare and has been reported in only a…
Genitopatellar syndrome
Genitopatellar syndome (GPS) is a genetic condition which affects different parts of the body. The most common signs and symptoms (features) of GPS include abnormal genitals (for boys, undescended testicles and underdeveloped scrotum; for girls, small labia and large clitoris), missing or underdeveloped kneecaps (patellae), stiff large joints with limited movement (such as contractures of hips and…
Xp22.3 microdeletion syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1643 Definition Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis,…
Supernumerary nipple
A supernumerary nipple is a common, minor birth defect that consists of an extra nipple (and/or related tissue) in addition to the two nipples that normally appear on the chest. Most supernumerary nipples do not cause symptoms or complications. They often are small and go undetected. Sometimes they are first noticed during puberty, menstruation, or pregnancy…
Gerstmann syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 221117 Definition Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter…
Die Smulders Vles Fryns syndrome
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Kaplan Plauchu Fitch syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 949 Definition A very rare acrofacialdyosotosis characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular…
Diffuse dermal angiomatosis
Diffuse dermal angiomatosis is a rare condition in which purplish patches develop in the skin, most often on the legs, though they may occur in other areas of the body.[1] Sometimes these purple patches can become open wounds in the skin (ulcerations), which may be painful. This condition occurs when cells that line blood vessels…
Acrorenal syndrome recessive
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Dissecting cellulitis of the scalp
Dissecting cellulitis of the scalp is a rare and severe form of scalp folliculitis. It is sometimes associated with acne conglobata, hidradenitis suppurativa and spinal arthritis. Signs and symptoms of this condition include lardge nodules and cysts as well as smaller follicular papules. Hair loss occurs over the affected region and permanent scarring and bald…
Acute megakaryoblastic leukemia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 518 Definition A rare acute myeloid leukemia that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous…
Down syndrome
Down syndrome is a chromosome disorder associated with intellectual disability, a characteristic facial appearance, with small nose and an upward slant to the eyes, and low muscle tone in infancy.[1][2] The degree of intellectual disability varies from mild to moderate. People with Down syndrome may also be born with various health concerns such as heart…
Small Intestinal Adenocarcinoma
Small intestine adenocarcinoma is one type of small bowel cancer, usually occurring in the duodenum or jejunum, that begins in the gland cells. The small intestine is part of the body’s digestive system, which also includes the esophagus, stomach, and large intestine.[1] The exact cause is still unknown, but it may be due to DNA…
Dyschondrosteosis nephritis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1765 Definition Dyschondrosteosis nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity (see this term), with hereditary nephritis. Epidemiology It was originally described in male…
Adrenomyodystrophy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 977 Definition An extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death….
Thakker-Donnai syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1780 Definition Thakker-Donnai syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (including long, downward slanting palpebral fissures, hypertelorism, posteriorly rotated ears, broad nasal bridge, short nose with a bulbous…
Internal carotid agenesis
Internal carotid agenesis occurs when one or both of the blood vessels that supply blood to the brain (internal carotid arteries) do not develop (agenesis). The missing carotid artery can be on either side of the body. People missing one or both of the internal carotid arteries may not have any symptoms, because the body develops other blood…
Al Gazali Sabrinathan Nair syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2773 Definition Osteogenesis imperfecta-retinopathyseizuresintellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents. Visit the Orphanet…
Elastoderma
Elastoderma is a rare condition that affects the skin. People affected by elastoderma generally have increased laxity of skin covering a specific area of the body. Decreased recoil of the skin has also been reported. Although any part of the body can be affected, the skin of the neck and extremities (arms and legs, especially…
Alexander disease
Alexander disease is a type of leukodystrophy characterized by the destruction of the myelin sheath (the fatty covering that acts as an insulator around nerve fiber) and abnormal protein deposits known as Rosenthal fibers. Most cases of Alexander disease begin before age 2 years (the infantile form). Symptoms of the infantile form include an enlarged brain…
Meningoencephalocele
Meningoencephalocele is a type of encephalocele, which is an abnormal sac of fluid, brain tissue, and meninges (membranes that cover the brain and spinal cord) that extends through a defect in the skull. There are two main types of meningoencephalocele, which are named according to the location of the sac. The frontoethmoidal type is located at…
Al-Gazali-Donnai-Mueller syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2153 Definition Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum,…
Temporal epilepsy, familial
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98819 Definition A rare, genetic epilepsy characterized by mostly benign simple or complex partial seizures with autonomic or psychic auras. Seizures occur infrequently, are of short duration and are usually well controlled with medication. Development…
Loeys-Dietz syndrome type 3
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 284984 Definition A rare, genetic, systemic disease characterized by the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and…
Familial nasal acilia
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Microphthalmia syndromic 9
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2470 Definition Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia. Epidemiology Only five cases have been reported so far, two of whom were…
Pigmented purpuric dermatosis
Pigmented purpuric dermatosis is a chronic condition characterized by reddish-brown skin lesions caused by leaky capillaries. Although they can arise on any part of the body, they are most commonly located on the lower legs.[1][2] In some cases, the skin lesions cause severe itching. The skin lesions may spread over time, or clear up on their own.[1] The cause of…
Antiphospholipid syndrome
Antiphospholipid syndrome (APS) is an autoimmune disorder. Signs and symptoms vary, but may include blood clots, miscarriage, rash, chronic headaches, dementia, and seizures.[1] APS occurs when your body’s immune system makes antibodies that attack phospholipids. Phospholipids are a type of fat found in all living cells, including blood cells and the lining of blood vessels….
Familial visceral myopathy with external ophthalmoplegia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1876 Definition Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction. Visit the Orphanet disease…
Spastic paraplegia 51
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Arachnoid cysts
Arachnoid cysts are sacs filled with cerebrospinal fluid (CSF) that are located between the brain or spinal cord and the arachnoid membrane, one of the three membranes that cover the brain and spinal cord. Arachnoid cysts can be primary or secondary. Primary arachnoid cysts are congenital (present at birth), resulting from abnormal development of the…
Floating-Harbor syndrome
Floating-Harbor syndrome (FHS) is named after the two hospitals that reported the first cases in the 1970s: Boston Floating Hospital and Harbor General Hospital in California.[1] Signs and symptoms of FHS include short stature, skeletal abnormalities, delayed bone age, kidney problems, minor problems with hearing and vision, characteristic facial features, speech and language problems, and mild…
Infantile histiocytoid cardiomyopathy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 137675 Definition Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium. Epidemiology The prevalence is unknown but less than 100…
Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1484 Definition Contractures ectodermal dysplasia cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia…
Atrial myxoma, familial
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 615 Definition Familial atrial myxoma is a rare, genetic cardiac tumor characterized by the presence of a primary, benign, gelatinous mass located in the atria and composed of primitive connective tissue cells and stroma (resembling…
Gaucher disease perinatal lethal
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85212 Definition Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term). Epidemiology It is very rare with an incidence of less than 5% of GD cases. Clinical description This…
Auriculo-condylar syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 137888 Definition A rare disorder that presents with bilateral external ear malformations (‘question mark’ ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay,…
Giant cell tumor of bone
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 363976 Definition A rare bone sarcoma characterized by a usually benign space-occupying lesion, which is nevertheless locally aggressive and massively damaging to surrounding bone tissue. The tumor is composed of giant multinucleated cells (osteoclast-like cells),…
Autoimmune oophoritis
Autoimmune oophoritis is a rare cause of primary ovarian insufficiency (POI). It happens when the body’s immune system mistakenly attacks the ovaries causing inflammation, atrophy and fibrosis. These changes stop the ovaries from working normally. The main symptoms of autoimmune oophorotis are irregular or absent menstrual period (amenorrhea) and symptoms related to ovarian cysts such…
Gliomatosis cerebri
Gliomatosis cerebri is a type of malignant (cancerous) brain tumor called a glioblastoma that develops from a specific type of brain cell called an astrocyte.[1] It involves at least three sections (lobes) within the main part of the brain (cerebrum). It may also affect both sides of the cerebrum as well as the nerve cells…
Hypospadias-intellectual disability, Goldblatt type syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2261 Definition Hypospasdias ? intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly,…
Growth hormone insensitivity with immunodeficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 181393 Definition Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS…
Palindromic rheumatism
Palindromic rheumatism (PR) is a type of recurrent arthritis characterized by episodes or “attacks” of joint inflammation, sequentially affecting one to several joint areas for hours to days.[1][2] A PR attack often occurs suddenly without any obvious triggers or warning symptoms. Any joint(s) may be affected, but finger joints, wrists, and knees are most commonly…
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome (BBS) is an inherited condition that affects many parts of the body. People with this syndrome have progressive visual impairment due to cone-rod dystrophy; extra fingers or toes (polydactyly); truncal obesity; decreased function of the male gonads (hypogonadism); kidney abnormalities; and learning difficulties.[1] Mutations in many genes are known to cause Bardet-Biedl syndrome and inheritance is…
Hereditary sensorimotor neuropathy with hyperelastic skin
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 280598 Definition Hereditary sensorimotor neuropathy with hyperelastic skin is a rare, genetic, demyelinating hereditary motor and sensory neuropathy disorder characterized by slowly progressive, mild to moderate, distal muscle weakness and atrophy of the upper and…
Biotin-thiamine-responsive basal ganglia disease
Biotin-thiamine-responsive basal ganglia disease is a rare condition that affects the brain and other parts of the nervous system. The severity of the condition and the associated signs and symptoms vary from person to person, even within the same family. Without early diagnosis and treatment, most affected people develop features of the condition between ages…
Glycoprotein VI deficiency
Glycoprotein VI deficiency is a rare condition that decreases the body’s ability to form blood clots. As a result, affected people may experience frequent nosebleeds and abnormally heavy or prolonged bleeding following minor injury or surgery. Women with the condition often have heavy or prolonged menstrual periods. Glycoprotein VI deficiency can be caused by changes…
Hypoplastic left heart syndrome
Hypoplastic left heart syndrome (HLHS) is a heart condition present from birth (congenital heart defect). In HLHS, the heart’s left side (including the aorta, aortic valve, left ventricle and mitral valve) is underdeveloped.[1] At birth, oxygen-rich blood bypasses the underdeveloped left side of the heart, going through openings between the left and right side that…
Cryptomicrotia brachydactyly syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1547 Definition Cryptomicrotia brachydactyly excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch…
Hypertryptophanemia
Hypertryptophanemia is a rare condition that likely occurs due to abnormalities in the body’s ability to process the amino acid (a building block of proteins), tryptophan. People affected by this condition may experience intellectual disability and behavioral problems (i.e. periodic mood swings, exaggerated emotional responses and abnormal sexual behavior).[1][2][3] The underlying genetic cause of hypertryptophanemia…
Fallot complex with severe mental and growth retardation
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3304 Definition Fallot complex intellectual deficit growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. Epidemiology To date, five patients have been reported…
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