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CODAS syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1458 Definition Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies. Epidemiology To date, three affected children (an unrelated Canadian girl and boy of Mennonite descent, and…
Cervical dystonia
Cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia). Most commonly, the head turns to one side or the other. Tilting sideways, or to the back or front may also occur.[1][2] The turning or tilting movements may be accompanied by shaking movement…
Children’s interstitial lung disease
Children’s interstitial and diffuse lung disease (chILD) is not a single condition, but a group of rare lung diseases found in infants, children and adolescents that can range from mild to severe[1]. All types of chILD decrease a child’s ability to supply oxygen to their body. These diseases make it difficult for the lungs to…
Megaduodenum and/or megacystis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2604 Definition Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and…
Gilbert syndrome
Gilbert syndrome is a mild liver disorder that impairs the body’s ability to process bilirubin, a substance made when old red blood cells are broken down. This leads to fluctuating levels of bilirubin in the blood, sometimes causing levels to be high (hyperbilirubinemia).[1] Most people with Gilbert syndrome do not have symptoms or have mild jaundice….
Ménière’s disease
Ménière’s disease is an abnormality of the inner ear. Signs and symptoms may include disabling vertigo or severe dizziness lasting from minutes to hours; tinnitus or a roaring sound in the ears; fluctuating hearing loss; and the sensation of pressure or pain in the affected ear. A small percentage of people have drop attacks. The…
Tietze syndrome
Tietze syndrome is an inflammatory condition characterized by chest pain and swelling of the cartilage around the ribs. Specifically, people with Tietze syndrome have swelling of the cartilage that joins the upper ribs to the breastbone. This is called the costochondral junction. Signs and symptoms of this condition usually develop in people who are under…
Metaplastic carcinoma of the breast
Metaplastic carcinoma of the breast is a rare form of breast cancer. The tumor cells differ in type from that of the typical ductal or lobular breast cancers. The cells look like skin cells or cells that make bone. Some women experience no early signs or symptoms, while others experience general symptoms of breast cancers,…
Ring chromosome 13
Ring chromosome 13 is a rare chromosome abnormality in which the ends of chromosome 13 join together to form a ring shape. When a ring forms, there may be missing genes where the chromosome’s ends fuse together. Therefore, the severity and symptoms associated with ring chromosome 13 vary from person to person, depending on the…
Mucolipidosis III alpha/beta
Mucolipidosis III (ML III) is a rare and progressive metabolic disorder that involves our body’s ability to break down certain fats (mucolipids). Symptoms typically present around age 3 and include developmental delay, joint pain, thickened skin, heart valve abnormalities, and intellectual disabilities or learning problems. Many individuals with ML III develop low bone density (osteoporosis),…
Ring chromosome 2
Ring chromosome 2 is a very rare chromosome abnormality in which the ends of chromosome 2 join together to form a ring shape. The severity and symptoms associated with ring chromosome 2 vary from person to person. Slow growth, short stature and a small head size are common features, but people with ring chromosome 2 may…
Mosaic trisomy 14
Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauterine growth…
Chromosome 3q deletion
Chromosome 3q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often…
Chromosome 7q duplication
Chromosome 7q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in…
Myxopapillary ependymoma
Myxopapillary ependymoma (MEPN) is a slow-growing ependymoma (a type of glioma, which is a tumor that arises from the supportive tissue of the brain and spinal cord).[1] They tend to occur in the lower part of the spinal column and are usually considered to be benign, low-grade or grade I tumors.[2] The age of diagnosis ranges…
Necrobiosis lipoidica
Necrobiosis lipoidica is a rare skin disorder of collagen degeneration. It is characterized by a rash that occurs on the lower legs. It is more common in women, and there are usually several spots. They are slightly raised shiny red-brown patches. The centers are often yellowish and may develop open sores that are slow to…
Intestinal pseudoobstruction neuronal chronic idiopathic X-linked
Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic…
Crane-Heise syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1512 Definition Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. Epidemiology Nine cases have been reported in the literature so far. Clinical description Dysmorphic…
Not otherwise specified 3-MGA-uria type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 67048 Definition 3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of…
Oculorenocerebellar syndrome
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Cobb syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 53721 Definition Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve…
Onchocerciasis
Onchocerciasis is a rare tropical parasitic disease transmitted by a black fly. Infection by the parasite can cause eye and skin problems. In humans, the parasitic worms live under the skin (subcutaneous nodules) and produce larvae (microfilariae). The larvae are found throughout the body, but especially in the skin and eyes.[1] Repeated bites by infected…
Peters anomaly
Peters anomaly is a disorder of the eye which involves thinning and clouding of the cornea and attachment of the iris to the cornea, which causes blurred vision. It may also be associated with clouding of the lens of the eye (cataracts) or other lens abnormalities.[1] The cause of Peters anomaly is unknown; it may…
Complement component 2 deficiency
Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions…
Pilodental dysplasia with refractive errors
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2892 Definition Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the…
Postorgasmic illness syndrome
Postorgasmic illness syndrome (POIS) is a rare condition in which a person develops flu-like and allergy symptoms after orgasm, whether with a partner, through masturbation, or spontaneously during sleep.[1][2][3] POIS typically is reported in males (after ejaculation), but females have rarely been reported to have symptoms of POIS.[1][3] Symptoms may develop within seconds, minutes, or…
Congenital rubella
Congenital rubella refers to the group of birth defects that occur in an infant whose mother is infected with the virus that causes German measles (rubella) during pregnancy. Congenital rubella occurs when the rubella virus in the mother affects the developing baby in the first 3 months of pregnancy. After the fourth month, if the…
Congenital sucrase-isomaltase deficiency
Congenital sucrase-isomaltase deficiency (CSID) is a genetic condition that affects a person’s ability to digest certain sugars. People with this condition cannot break down the sugars sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains). CSID usually becomes apparent after an infant begins to consume…
Menkes disease
Menkes disease (MD) is an inherited condition that impacts the way the body processes copper levels in the body. MD primarily affects the nervous system and connective tissue with symptoms that tend to get worse over time. Symptoms of MD usually appear within the first few months of life and include sparse, kinky hair; slow…
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 300570 Definition A rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disease characterized by the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial…
Sydenham’s chorea
Sydenham’s chorea is a neurological disorder characterized by rapid, jerky, irregular, and involuntary movements (chorea), especially of the face and limbs.[1][2] Additional symptoms may include muscle weakness, slurred speech, headaches, and seizures. Children with Sydenham’s chorea often have emotional or behavioral problems such as obsessive-compulsive disorder, distractibility, irritability, and inappropriate outbursts of laughing or crying.[2]…
Temtamy syndrome
Temtamy syndrome is a developmental neurological disorder, meaning that it affects the way the brain is formed and how well it functions. In most cases, the bundle of nerve fibers (the corpus callosum) that connects the two sides of the brain is partially or completely missing. Other symptoms may include seizures, changes in the size or function of…
Cryoglobulinemic vasculitis
Cryoglobulinemic vasculitis occurs when the body makes a mix of abnormal immune system proteins called cryoglobulins. At temperatures less than 98.6 degrees Fahrenheit (normal body temperature), cryoglobulins become solid or gel-like and can block blood vessels. This causes a variety of health problems. Many people with cryoglobulins will not experience any symptoms. When symptoms occur, they…
Spinocerebellar ataxia 31
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 217012 Definition An autosomal dominant cerebellar ataxia type III that is characterized by the late-onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and…
White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
White matter hypoplasiacorpus callosum agenesisintellectual disability syndrome is a very rare neurological condition. The few patients described in the medical literature were characterized by brain anomalies; an unusual face with broad nasal root, widely spaced eyes (hypertelorism), and a very small chin (micrognathia); failure to thrive; severe intellectual disability; and lack of muscle tone (hypotonia). Exams…
SERKAL syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 139466 Definition SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. Epidemiology The syndrome is lethal and…
Cysticercosis
Cysticercosis is an infection caused by the pork tapeworm, Taenia solium. The condition develops when tapeworm eggs, which can be found in contaminated food, enter the body and form cysticeri (cysts). In most cases, the worms stay in the muscles and do not cause symptoms. However, symptoms may be present when the infection is found…
Holt-Oram syndrome
Holt-Oram syndrome affects the bones of the hands and arms and may also affect the heart. People with Holt-Oram syndrome have at least one bone in the wrist that did not form (develop) normally. Other bones in the hands, arms, and shoulder may also have developed abnormally. Many of these developmental changes in the bones can…
New-onset refractory status epilepticus
New-onset refractory status epilepticus (NORSE) occurs when a person without a previous history of seizures, experiences status epilepticus (SE) without a clear cause. SE describes a state in which a person has one prolonged seizure, or a cluster of seizures without recovery time in between.[1][2][3] The symptoms of NORSE typically begin with a mild fever and general symptoms…
Farber disease
Farber disease is an inherited lipid storage disease in which an excess amount of fat builds up in the joints, tissues, and central nervous system. Symptoms of Farber disease include a hoarse voice or weak cry, small lumps of fat under the skin and in other tissues (lipogranulomas), and swollen and painful joints. Other symptoms may…
2p15p16.1 microdeletion syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 261349 Definition 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. Epidemiology It has been clinically and molecularly characterized in 5 patients. Clinical description Dysmorphic features include receding forehead,…
Tetraamelia-multiple malformations syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3301 Definition Tetraamelia multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital,…
Developmental dysphasia familial
Developmental dysphasia is a language disorder that develops in children. The disorder typically involves difficulties speaking and understanding spoken words. The symptoms cannot be attributed to sensorimotor, intellectual deficits, autism spectrum, or other developmental impairments. Likewise it does not occur as the consequence of an evident brain lesion or as a result of the child’s social environment. Familial cases of developmental dyphasia have been…
Landau-Kleffner syndrome
Landau-Kleffner syndrome (LKS) is a rare neurological syndrome characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and recurrent seizures (epilepsy). Children with LKS typically develop normally until signs and symptoms of the syndrome begin to develop between age 2 and 8 years.[1][2] Males are more often affected by LKS than females.[1] In…
Diabetic mastopathy
Diabetic mastopathy are noncancerous lesions in the breast most commonly diagnosed in premenopausal women with type 1 diabetes.[1][2][3] The cause of this condition is unknown.[1][2][3][4][5] Symptoms may include hard, irregular, easily movable, discrete, painless breast mass(es).[1][4][6]
Acrocephalopolydactyly
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 221054 Definition An extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears),…
Acropectorovertebral dysplasia F form
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 957 Definition A rare skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes,…
Male pseudohermaphroditism intellectual disability syndrome, Verloes type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2983 Definition Verloes-Gillerot-Fryns syndrome is a rare association of malformations. Epidemiology It has been described in only three patients, including two sibs. Clinical description The first patient had profound intellectual deficit. His general aspect clearly…
Acute necrotizing encephalopathy
Acute necrotizing encephalopathy (ANE) is a rare disease characterized by brain damage (encephalopathy) that usually follows an acute febrile disease, mostly viral infections.[1]. Most of the reported cases are from previously healthy Japanese and Taiwanese children, but it is now known that the disease may affect anybody in the world. The symptoms of the viral infection…
Kenny-Caffey syndrome type 2
Kenny-Caffey syndrome type 2 is a genetic disorder that affects the skeleton, head, and eyes. It causes frequent episodes of low blood calcium (hypocalcemia). This syndrome is caused by changes (pathogenic variants) in the FAM111A gene and is inherited in an autosomal dominant pattern. Treatment often includes calcium and vitamin D supplements and addressing any medical issues as…
Adrenomyeloneuropathy
Adrenomyeloneuropathy (AMN) is an inherited condition that affects the spinal cord. It is a form of X-linked adrenoleukodystrophy. On average, people with AMN begin to develop features in the late twenties. Signs and symptoms may include progressive stiffness and weakness of the legs; ataxia; speech difficulties; adrenal insufficiency; sexual dysfunction; and bladder control issues. Some people with…
Spondylometaphyseal dysplasia, Kozlowski type
Spondylometaphyseal dysplasia, Kozlowski type is a bone disease characterized by short stature involving the trunk. “Spondylo”refers to the spine (vertebrae), “metaphysis” refers to the wide part of the bone that contains the growth plate (the part of the bone that grows during childhood), and “dysplasia” means abnormal growth. It usually starts in early childhood when poor growth…
Ebola virus disease
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Desmoid tumor
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 873 Definition A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential. Epidemiology DTs account for < 3% of soft tissue tumors….
Morning glory syndrome
Morning glory syndrome (MGS) is a birth (congenital) defect of the nerve of the eye (optic nerve) that resembles a flower known as “morning glory”. It is characterized by an enlarged, funnel-shaped cavity of the optic disc, the point in the eye where the optic nerve fibers leave the retina. The disc is enlarged and has…
Juvenile myoclonic epilepsy
Juvenile myoclonic epilepsy is an epilepsy syndrome characterized by myoclonic jerks (quick jerks of the arms or legs), generalized tonic-clonic seizures (GTCSs), and sometimes, absence seizures. The seizures of juvenile myoclonic epilepsy often occur when people first awaken in the morning. Seizures can be triggered by lack of sleep, extreme fatigue, stress, or alcohol consumption. Onset typically occurs around…
Encephalitis lethargica
Encephalitis lethargica (EL) is a disease characterized by high fever, headache, double vision, delayed physical and mental response, extreme tiredness (lethargy), and sometimes coma. Patients may also experience abnormal eye movements, upper body weakness, muscle pain, tremors, neck rigidity, and behavioral changes including psychosis. A worldwide epidemic of EL occurred from 1917 to 1928 with more than…
ALG8-CDG (CDG-Ih)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79325 Definition A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy,…
Fucosidosis
Fucosidosis is a lysosomal storage disease that affects many areas of the body, especially the brain. Affected individuals have intellectual disability that worsens with age, and many develop dementia later in life. People with this condition often have delayed development of motor skills such as walking, and the skills they do acquire often deteriorate over time….
Erythema elevatum diutinum
Erythema elevatum diutinum (EED) is a disorder of the skin associated with small blood vessel inflammation (vasculitis). Symptoms include red, purple, brown or yellow bumps of different sizes that grow on or just below the skin. These growths are located mainly on the elbows, knees, ankles, hands, and fingers. People with EED may also have joint pain, but…
Apparent mineralocorticoid excess
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Polydactyly
Polydactyly is a condition in which a person has more than five fingers per hand or five toes per foot. It is the most common birth defect of the hand and foot. Polydactyly can occur as an isolated finding such that the person has no other physical anomalies or intellectual impairment. However, it can occur…
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