Rare Cardiology News
Advertisement
Microcephaly microcornea syndrome Seemanova type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2528 Definition Microcephaly-microcornea syndrome, Seemanova type is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a…
16q24.3 microdeletion syndrome
16q24.3 microdeletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated q24.3. Signs and symptoms may include developmental delay, characteristic facial features, seizures and autism spectrum disorder.[1][2][3] Chromosome testing of both parents can provide…
17q12 duplication
17q12 duplication occurs when a person has an extra copy of a portion of chromosome 17. Our genetic information is organized in structures called chromosomes. People with 17q12 duplication have an extra piece of genetic information from chromosome 17. Some people with this duplication do not have any signs or symptoms. Other people may have…
Ring chromosome 22
Ring chromosome 22 is a rare condition caused by having an abnormal chromosome 22 that forms a ring. In this chromosome abnormality, a segment on the short (p) arm and a segment on the long (q) arm of 22 are missing. The amount of material lost varies from person to person. The remaining ends of chromosome…
Chromosome 7p deletion
Chromosome 7p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7. 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…
Triploidy
Triploidy is a chromosome abnormality that occurs when there is an extra set of chromosomes present in each cell. Most pregnancies affected by triploidy are lost through early miscarriage. However, reports exist of some affected babies living up to five months. Those that survive are often mosaic. The signs and symptoms associated with triploidy vary…
Nasopalpebral lipoma coloboma syndrome
empty
Hereditary sensory and autonomic neuropathy type 7
Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues.[1][2][3] Gastrointestinal issues can cause failure to thrive, painful constipation, and diarrhea.[1][3] The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move…
Oculocerebral hypopigmentation syndrome type Preus
empty
Oslam syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2760 Definition OSLAM syndrome is characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia. Epidemiology…
Mitochondrial complex III deficiency
Mitochondrial complex III deficiency is one of several conditions caused by dysfunction of mitochondria, which are specialized compartments in cells that generate more than 90% of the energy required by the body.[1] It is a severe, multisystem disorder that includes features such as lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development….
Trichohepatoenteric syndrome
Trichohepatoenteric syndrome is a condition that affects the hair, liver, and intestines. The condition is characterized by chronic diarrhea that begins during the first six months after birth. Continued diarrhea can lead to an inability to gain weight (failure to thrive). Trichohepatoenteric syndrome also causes liver disease such as cirrhosis (chronic liver damage) or hepatomegaly…
Papillary renal cell carcinoma
Papillary renal cell carcinoma (PRCC) is a type of cancer that occurs in the kidneys. It accounts for about 10-15% of all renal cell carcinomas.[1]Renal cell carcinomas are a type of kidney cancer that develop in the lining of very small tubes (tubules) in the kidney.[2]The term “papillary” describes the finger-like projections that can be found…
Gastroschisis
Gastroschisis is a birth defect that occurs when a baby’s intestines extend outside of the body through a hole next to the belly button. This type of defect is known as an abdominal wall defect. Sometimes other organs are also involved.[1][2] The exact cause of a gastroschisis is usually not known, but it is more…
Lung agenesis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 984 Definition A rare, non-syndromic respiratory or mediastinal malformation characterized by unilateral complete absence of lung tissue, bronchi, and pulmonary vessels. It may be isolated or associated with congenital malformations, most commonly with heart anomalies….
Progressive bulbar palsy
Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in…
Recombinant chromosome 8 syndrome
Recombinant chromosome 8 syndrome is a condition that involves heart and urinary tract abnormalities, moderate to severe intellectual disability, and a distinctive facial appearance. Many children with recombinant chromosome 8 syndrome do not survive past early childhood, usually due to complications related to their heart abnormalities. Most people with this condition are descended from a Hispanic population…
Sclerosteosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3152 Definition Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia),…
Cramp-fasciculation syndrome
Cramp-fasciculation syndrome (CFS) is a rare condition of the muscles characterized by persistent muscle cramping and twitching (fasciculations) in otherwise healthy individuals. This can lead to muscle discomfort, pain, or tiredness. Muscles in the leg are most commonly affected, although this condition may involve several parts of the body. Symptoms are thought to be due…
Spinal atrophy ophthalmoplegia pyramidal syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1217 Definition Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have…
Spinocerebellar ataxia
Spinocerebellar ataxia (SCA) is a term referring to a group of hereditary ataxias that are characterized by degenerative changes in the part of the brain related to the movement control (cerebellum), and sometimes in the spinal cord.[1] There are many different types of SCA, and they are classified according to the mutated (altered) gene responsible…
Harrod Doman Keele syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2115 Definition Harrod syndrome is characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes…
Daish Hardman Lamont syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2181 Definition Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have…
Sudden infant death syndrome
Sudden infant death syndrome (SIDS) is the unexpected, sudden death of a child under age 1 which cannot be explained after a thorough investigation is conducted. Infants who are affected by the condition generally appear healthy with no suspicious signs and symptoms prior to the incident.[1][2] It is the leading cause of death in infants…
DCMA syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 66634 Definition Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic…
Hydrocephalus-cleft palate-joint contractures syndrome
Hydrocephaluscleft palate-joint contractures syndrome is a rare genetic disorder characterized by a buildup of fluid in the brain (hydrocephalus) due to a brain abnormality called Dandy-Walker malformation, cleft palate, and stiff or “frozen” joints (contractures). Less than 20 cases of hydrocephalus-cleft palate-joint contractures syndrome have been reported. Other symptoms might include: thin fingers with absent knuckles and…
Spastic paraplegia 26
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101006 Definition Autosomal recessive spastic paraplegia type 26 (SPG26) is a rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to…
Absence of tibia with polydactyly
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 988 Definition Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked interand intrafamilial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in…
Mehes syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3038 Definition This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases. Epidemiology To date, six cases have been reported in five families. Clinical…
Aplasia cutis congenita intestinal lymphangiectasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1116 Definition An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as…
Synovial Chondromatosis
Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint.[1] Some tumors may be no larger than a grain…
Thoracic outlet syndromes
Thoracic outlet syndromes (TOSs) are a group of disorders with one common feature: the compression of 1 or more of the nerves and/or blood vessels just above the first rib and behind the collarbone.[1][2] There are 4 recognized subtypes of TOS, each with a distinct cause and pattern of symptoms. A fifth subtype is controversial.[1][3][4] While…
Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 is a rare condition characterized by the overproduction of a substance called oxalate (also called oxalic acid). In the kidneys, the excess oxalate combines with calcium to form calcium oxalate, a hard compound that is the main component of kidney stones. Deposits of calcium oxalate can lead to kidney damage, kidney…
Transient global amnesia
Transient global amnesia (TGA) is a condition characterized by sudden onset of memory loss and confusion. During an episode of TGA, a person is not able to make new memories. The person may be disoriented in regard to time and place, but can remember who they are and can recognize family members. TGA typically lasts…
Dieulafoy lesion
Dieulafoy lesion is an abnormally large artery (a vessel that takes blood from the heart to other areas of the body) in the lining of the gastrointestinal system. It is most common in the stomach but can occur in other locations, including the small and large intestine. Dieulafoy lesions can cause severe and sudden gastrointestinal…
Acrorenal mandibular syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 958 Definition A very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive…
UV sensitive syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 178338 Definition A rare photodermatosis characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of developing skin tumors. Telangiectasia may also be observed, but no other clinical abnormalities. Patients present in infancy or…
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…
Rare Cardiology News