Rare Cardiology News
Advertisement
Pulmonary vein stenosis
Pulmonary vein stenosis is a very rare and serious condition in which there is a blockage in the blood vessels that bring oxygen-rich blood from the lungs back to the heart. This condition can be isolated to one vein, but often affects multiple veins. Stenosis occurs when there is an abnormal thickening and narrowing of…
Meesmann corneal dystrophy
Meesmann corneal dystrophy (MECD) is a rare genetic condition affecting the clear front covering of the eye (cornea). It is characterized by the development of multiple tiny round cysts in the outermost layer of the cornea (corneal epithelium). Over time, these cysts can break open (rupture) and cause irritation and erosions. Symptoms usually appear around adulthood and may include…
Rocky mountain spotted fever
Rocky Mountain spotted fever refers to an infection caused by the bacterium Rickettsia rickettsia. This particular bacterium is carried by certain species of ticks and spread to humans through the bites of infected ticks. Signs and symptoms of the condition generally develop approximately 2 to 14 days following the tick bite and may include fever,…
Teebi Shaltout syndrome
empty
Gracile bone dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2763 Definition Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization. Epidemiology…
Crossed polysyndactyly
empty
Corneal dystrophy and perceptive deafness
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1490 Definition Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED; see this term) with progressive, postlingual sensorineural hearing loss. Epidemiology To…
Spinocerebellar ataxia 30
empty
Severe intellectual disability-progressive spastic diplegia syndrome
Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability . Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene…
Hashimoto encephalopathy
Hashimoto encephalopathy (HE) affects the brain and how the brain works. Symptoms of HE may include behavior changes, confusion, cognitive difficulty, and seizures. Psychosis, including visual hallucinations and paranoid delusions, has also been reported. HE occurs mainly in adults and affects females more than males. The exact cause of HE is not known but may…
Semantic dementia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100069 Definition Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or…
Graham Boyle Troxell syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2111 Definition Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others…
Split hand/foot malformation X-linked
Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits.[1][2] The severity of this condition varies widely among affected individuals. SHFM is sometimes called ectrodactyly; however, this is a nonspecific term used to describe missing…
Brown-Sequard syndrome
Brown-Sequard syndrome is a rare neurological condition that results from an injury or damage to one side of the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia).[1][2] Brown-Sequard syndrome most commonly occurs in the the thoracic spine…
Spondylometaepiphyseal dysplasia short limb-hand type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93358 Definition Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed…
Mohr-Tranebjaerg syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 52368 Definition An X-linked syndromic intellectual disability characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from…
Dermatosparaxis Ehlers-Danlos syndrome
Dermatosparaxis Ehlers-Danlos syndrome (dEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include soft, doughy skin that is extremely fragile; saggy, redundant skin, especially on the face; hernias; and mild to severe joint hypermobility.[1][2][3] EDS, dermatosparaxis type is caused by changes (mutations) in the ADAMTS2 gene…
Amelogenesis imperfecta nephrocalcinosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1031 Definition A extremely rare, genetic malformation syndrome characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption,…
Ventricular extrasystoles with syncopal episodes perodactyly Robin sequence
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3201 Definition This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence (see…
SATB2-associated syndrome
The SATB2-associated syndrome (SAS) is a recently described condition, characterized by developmental delay, intellectual disability with absent or limited language skills, palatal and dental abnormalities, behavioral problems, and unusual facial features. The main symptoms can be remembered using the acronym S.A.T.B.2 (S, Severe speech anomalies; A, Abnormalities of the palate; T, Teeth anomalies; B, Behavioral issues with or without Bone or Brain anomalies, and…
Accessory navicular bone
An accessory navicular bone is an extra bone or piece of cartilage located in the middle of the foot near the navicular bone, the bone that goes across the foot near the instep. It is present from birth (congenital) and is a common trait.[1][2] The reported incidence differs among populations and ethnic groups, and they…
Tetra-amelia syndrome
Tetra-amelia syndrome is a very rare disorder characterized by the absence of all four limbs. This syndrome can also cause severe malformations of other parts of the body, including the face and head, heart, nervous system, skeleton, and genitalia. The lungs are underdeveloped in many cases, which makes breathing difficult or impossible. Because children with…
Dextrocardia
Dextrocardia is a condition in which the heart is located in the right side of the chest instead of the left. It is usually present from birth (congenital). There are several types of dextrocardia. The simplest type occurs when the shape and structure of the heart is a mirror image of a normal heart. Other…
Glycogen storage disease type 2
Glycogen storage disease type 2, also known as Pompe disease or acid maltase deficiency disease, is an inherited metabolic disorder.[1][2][3] While glycogen storage disease type 2 is a single disease, it may be classified in 2 forms according to the rates of disease progression, its severity and the age at which symptoms start. The classic infantile-onset starts before 12…
Vascular hyalinosis
empty
Acropectoral syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85203 Definition A rare syndrome characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. Visit the Orphanet disease page…
White forelock with malformations
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2475 Definition White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye…
Broken heart syndrome
Broken heart syndrome is a temporary condition that affects the heart. In people with this condition, extreme emotional or physical stress (i.e. intense grief, anger, surprise, illness or surgery) can lead to heart muscle failure. Signs and symptoms of the condition mimic those of a heart attack and may include sudden chest pain, shortness of…
Stevens-Johnson syndrome/toxic epidermal necrolysis
Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a very severe reaction, most commonly triggered by medications, that causes skin tissue to die (necrosis) and detach. The mucous membranes of the eyes, mouth, and/or genitals are also commonly affected.[1] SJS and TEN previously were thought to be separate conditions, but they are now considered part of a disease spectrum. SJS…
Adrenal cancer
Adrenal cancer is a rare form of cancer that occurs due to abnormal and uncontrolled cell growth in the adrenal glands (small glands that sit above each kidney). There are three different types of adrenal cancer which vary by location and the age at which they are often diagnosed: Adrenocortical carcinoma The most common type…
Rapid-onset dystonia-parkinsonism
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 71517 Definition Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress. Epidemiology The prevalence is unknown. Fewer than 100…
Eastern equine encephalitis
Eastern equine encephalitis (Triple E) is an illness caused by a virus that comes from an infected mosquito bite. Most people who are infected have no symptoms, but some may develop fever, headaches, and vomiting. Symptoms occur within 4-10 days of being infected and most recover in 1-2 weeks. A small number will develop swelling of…
Graham-Cox syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 52055 Definition Corpus callosum agenesisintellectual disability-colobomamicrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum…
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency is an inborn error of metabolism characterized by delayed psychomotor development, neurological degeneration, increased lactic acid, and brain lesions in structures of the brain known as the basal ganglia.[1] It is one subtype of Leigh-Like syndrome.[2] Only a few cases have being reported. Symptoms may include delayed motor and…
PCDH19-related female-limited epilepsy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101039 Definition Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life…
Linear scleroderma
Linear scleroderma is one sub-type of localized scleroderma, most commonly occurring in childhood. It is characterized by abnormalities of the skin and subcutaneous tissues that often follow a dermatomal distribution and that are found on one side of the body. Besides the lesion in the face or scalp there are also abnormalities of the muscles,…
Alezzandrini syndrome
Alezzandrini syndrome is a very rare syndrome characterized by retinitis pigmentosa (breakdown and loss of cells in the retina—which is the light sensitive tissue that lines the back of the eye), whitish patches in the skin (vitiligo) and whitening of eyebrow and eyelashes (poliosis) all on the same side of the face.[1][2] It is very similar to Vogt-Koyanagi-Harada…
Fish-eye disease
Fisheye disease is a rare condition that affects the eyes. People with this condition generally develop corneal clouding beginning in adolescence or early adulthood. Overtime, the condition gradually worsens and can lead to significant vision loss. Fish-eye disease is caused by changes (mutations) in the LCAT gene and is inherited in an autosomal recessive manner….
Amelogenesis imperfecta
Amelogenesis imperfecta (AI) (amelogenesis – enamel formation; imperfecta imperfect) is a disorder that affects the structure and appearance of the enamel of the teeth. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage with early tooth decay and loss. These dental problems, which vary among affected individuals, can affect both…
Amniotic band syndrome
Amniotic band syndrome refers to a condition in which bands develop from the inner lining of the amnion. The amnion is the sac that surrounds the baby in the womb. As the baby develops in the womb, the bands may attach to and affect the development of different areas of the body. This may result…
Myhre syndrome
Myhre syndrome is a rare, connective tissue disorder that affects many parts of the body. Signs and symptoms include fibrosis (thickening and scarring of connective tissue), intellectual disability, distinctive facial features, skeletal abnormalities, and/or various birth defects. The syndrome may affect the structure or function of the heart, the respiratory system, the gastrointestinal system, and the skin.[1][2]…
Vibratory urticaria
Vibratory urticaria is a rare condition that is characterized by itching, reddish skin and swelling within minutes of local exposure to vibration. Areas of skin that are most exposed to the stimulus (often the hands) are generally more severely affected. People with this condition may also experience flushing, headaches, fatigue, blurry vision or a metallic taste…
Dyssegmental dysplasia Silverman-Handmaker type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1865 Definition Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic…
Familial primary hypomagnesemia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 34526 Definition A rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption, resulting in a low Mg concentration in the blood. Epidemiology To date, more than…
Persistent Müllerian duct syndrome
Persistent Müllerian duct syndrome (PMDS) is affects the development of the sexual organs in males. Males with PMDS have normal testes and normal male external genitals. However, they also have a uterus and fallopian tubes (female reproductive organs). Early signs of PMDS may include undescended testes (cryptorchidism) or inguinal hernias. The uterus and fallopian tubes…
Roberts syndrome
Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities. Affected individuals are born with abnormalities of all four limbs and typically have shortened arm and leg bones (hypomelia). They may also have phocomelia (in severe cases); abnormal or missing fingers and toes; joint deformities (contractures); and numerous facial abnormalities including cleft lip with or…
Frasier syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 347 Definition A rare genetic, syndromic glomerular disorder characterized by the association of progressive glomerular nephropathy and 46,XY complete gonadal dysgenesis with a high risk of developing gonadoblastoma. Epidemiology To date, less than 150 cases…
Aspergillosis
Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus.[1] There are several different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing and coughing, but does not actually invade and destroy tissue.[2][1] Another…
Shashi-Pena syndrome
Shashi-Pena syndrome is a rare neurologic disease characterized by delayed psychologic and motor development, variable intellectual disability, and poor muscle tone (hypotonia). Described features include tall stature, a large head (macrocephaly), deep palmar creases, and distinct facial features. These features include a port-wine birthmark on the forehead (glabellar nevus flammeus), widely spaced eyes (hypertelorism), arched eyebrows,…
Genito palato cardiac syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2075 Definition Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies. Visit the Orphanet disease page…
Autoimmune myocarditis
Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore…
MBD25–related intellectual disability
MBD25–related intellectual disability, or MBD25 haploinsufficiency, is a neurological and developmental disorder characterized by developmental delay, intellectual disability, speech problems, seizures, sleep troubles, and abnormal behaviors. Most children lack speech entirely or may only be able to use single words, short phrases, or short sentences. Seizures are present in about 80% and usually begin around age two…
Glycogen storage disease type 1B
Glycogen storage disease type 1B (GSD1B) is an inherited condition in which the body is unable to break down a complex sugar called glycogen. As a result, glycogen accumulates in cells throughout the body. In GSD1B, specifically, glycogen and fats build up within the liver and kidneys which can cause these organs to be enlarged…
Severe generalized recessive dystrophic epidermolysis bullosa
Severe generalized recessive dystrophic epidermolysis bullosa is the most severe types of dystrophic epidermolysis bullosa. The signs and symptoms of this condition involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems. As the blisters heal, they result in severe scarring. Scarring in the mouth and esophagus can make it difficult to…
Primary angiitis of the central nervous system
Primary angiitis of the central nervous system is a rare form of vasculitis (inflammation of blood vessels) affecting the blood vessels that nourish the brain, spinal cord and peripheral nerves. This condition can lead to narrowing and blockage of the blood vessels of the central nervous system which can eventually cause aneurysms, ischemia and/or hemmorrhage. The cause…
Melioidosis
Melioidosis is an infectious disease caused by the bacteria Burkholderia pseudomallei that are commonly found in the soil and water.[1] Melioidosis is a rare disease in the United States, but it is common in tropical or subtropical areas of the world, including Southeast Asia, Africa, and Australia.[2][3] The signs and symptoms of the disease can…
Progeria
Progeria leads to extreme premature aging and affects many different body systems. The symptoms begin within a year of life with poor growth and weight gain. Children with progeria have a characteristic facial appearance with a large head, small mouth and chin, narrow nose and large eyes. Other symptoms include baldness, loss of fat under the…
Sinonasal undifferentiated carcinoma
Sinonasal undifferentiated carcinoma (SNUC) is a type of cancer that develops in the sinuses of the head. SNUC occurs when cells from the layer of tissue that lines the sinuses (called the epithelium) rapidly increase in number, forming a mass. The first symptoms of SNUC may include difficulty breathing though the nose or mild facial pain….
GM1 gangliosidosis
GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). Although…
Hypophosphatemic rickets
Hypophosphatemic rickets (previously called vitamin D-resistant rickets) is a disorder in which the bones become painfully soft and bend easily, due to low levels of phosphate in the blood.[1] Symptoms usually begin in early childhood and can range in severity. Severe forms may cause bowing of the legs and other bone deformities; bone pain; joint…
Blepharophimosis intellectual disability syndromes
Blepharophimosis intellectual disability syndromes refers to a group of syndromes, including Ohdo syndrome and Say Barber Biesecker Young-Simpson syndrome, that are characterized by narrow eye openings (blepharophimosis), drooping of the upper eye lids (ptosis) and intellectual disability. Dr. Ohdo published an article in 1986 describing the first three cases of this syndrome (in a brother, sister, and cousin).[1][2] Since that time many other case…
Rare Cardiology News