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Multicystic renal dysplasia, bilateral
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 97364DefinitionBilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating…
Hypertrichosis universalis
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Bjornstad syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 123 Definition Björnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. Epidemiology Less than fifty cases have been reported so far. Clinical description The hearing loss usually becomes evident very early in…
Blastomycosis
Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis, a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. The fungus then spreads to other areas of the body. The infection may affect the skin,…
Idiopathic inflammatory myopathy
Idiopathic inflammatory myopathy refers to a group of conditions that affect the skeletal muscles (muscles used for movement). Although the condition can be diagnosed at any age, idiopathic inflammatory myopathy most commonly occurs in adults between ages 40 and 60 years or in children between ages 5 and 15 years. Signs and symptoms of the…
Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome (BOS) affects the skin and bones causing skin lesions and spots on the bones. The skin lesions are due to abnormalities in different types of connective tissue. The bone spots are painless areas of increased bone density seen on X-ray. People with BOS may have only skin, only bone or both skin and bone…
Preaxial polydactyly type 3
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93337 Definition Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits…
Kozlowski-Krajewska syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3082 Definition Intellectual disabilitypolydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures,…
Brucellosis
Brucellosis is a bacterial infection that spreads from animals to people via unpasteurized dairy products or by exposure to contaminated animal products or infected animals.[1][2] Animals that are most commonly infected include sheep, cattle, goats, pigs, and dogs. Brucellosis can cause of range of signs and symptoms, some of which may persist or recur. Initial…
Iridogoniodysgenesis type 2
Iridogoniodysgenesis type 2 is a rare condition that affects the eyes. People with this condition are born with malformations of the iris (the colored part of the eye) and cornea, which eventually lead to early-onset glaucoma. The irides of affected people are unusually dark. For example, studies of the condition often describe ‘brown’ irides as…
Pilocytic astrocytoma
Pilocytic astrocytoma is an often benign, slow-growing tumor of the brain or spinal cord. The tumor may be in the form of a cyst and usually does not spread to nearby tissues. Symptoms vary depending upon the size and location of the tumor. Most symptoms result from increased pressure on the brain and include headaches, nausea,…
Chondrocalcinosis 2
Chondrocalcinosis 2 is a rare disease characterized by the accumulation of calcium pyrophosphate dihydrate (CPP) crystals in and around the joints. A buildup of these crystals can lead to joint pain and damage that is progressive (worsens over time).[1][2] Signs and symptoms of the disease include chronic joint pain or sudden, recurrent episodes of pain, as well…
Keratoconus
Keratoconus is the degeneration of the structure of the cornea, which is the clear tissue covering the front of the eye. In this condition, the shape of the cornea slowly changes from the normal round shape to a cone shape. Most people who develop keratoconus start out nearsighted, which tends to become worse over time. The earliest symptom…
Klebsiella infection
Klebsiella is a type of bacteria commonly found in nature. In humans, the bacteria are often present in parts of the digestive tract where they do not generally cause problems. In the United States, Klebsiella pneumoniae and Klebsiella oxytoca are the two strains responsible for most human illnesses. Many Klebsiella infections are acquired in the…
Glucose-galactose malabsorption
Glucose-galactose malabsorption (GGM) is a genetic condition in which the sugars glucose and galactose cannot be properly absorbed by the body. Infants with GGM develop severe diarrhea resulting in life-threatening dehydration, acidosis, and weight loss in the first few weeks of life. GGM is caused by mutations in the SLC5A1 gene and is inherited in an autosomal recessive manner. This gene normally makes a…
Cardiomyopathy cataract hip spine disease
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1345 Definition Cardiomyopathy cataract hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly….
Levic Stefanovic Nikolic syndrome
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Cerulean cataract
Cerulean cataracts are opaque areas that develop in the lens of the eye that often have a bluish or whitish color. They may be present at birth or develop in very early childhood, but may not be diagnosed until adulthood.[1] They are usually bilateral and progressive.[2] Infants can be asymptomatic, but may also be visually impaired from birth…
Lipedema
Lipedema is characterized by increased enlargement of both legs due to deposits of fat beneath the skin. Symptoms of lipedema usually occur in women and begin around times of hormonal change, such as puberty or menopause. Symptoms may include enlargement of the upper legs, arms, pain, and easy bruising. The cause of lipedema is unknown. Many…
Dysequilibrium syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1766 Definition Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia. Epidemiology To date, more than 50 individuals have been reported in the…
Manitoba oculotrichoanal syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2717 Definition Oculotrichoanal syndrome is a form of rare, multiple congenital anomalies/dysmorphic syndrome characterized by a combination of various nose, eye, gastrointestinal and genitourinary abnormalities. Clinical presentation is variable and often includes bifid and broad…
Charcot-Marie-Tooth disease type 2P
Charcot-Marie-Tooth disease type 2P (CMT2P) is a subtype of Charcot-Marie-Tooth caused by changes (mutations) in the LRSAM1 gene. The onset of symptoms commonly occurs between 20 and 40 years of age and the disease seems to be relatively mild and benign. Symptoms may include mild loss of sensation in the fingertips and severe loss of sensation…
Childhood acute lymphoblastic leukemia
Childhood acute lymphoblastic leukemia (ALL) is a type of cancer of the blood and bone marrow, and the most common type of cancer in children. In children with this condition, too many stem cells made by the bone marrow become lymphoblasts, B lymphocytes, or T lymphocytes. These cells do not function normally and have trouble…
Mesomelic dysplasia Savarirayan type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85170 Definition Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening…
Chromosome 10p deletion
Chromosome 10p deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of chromosome 10. The severity and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features may affect many parts of the body and may include…
Metatarsus adductus
Metatarsus adductus is a common foot deformity where the bones of the front of the foot bend or turn in toward the body. It may affect one or both feet. MedlinePlus provides an online image of metatarsus adductus. Newborns with metatarsus adductus may also have a problem called developmental dysplasia of the hip. This can…
Chromosome 13q deletion
Chromosome 13q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 13. 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 occur…
Schisis association
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 63862 Definition Schisis association describes the combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia (see these terms). These…
Ring chromosome 19
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Monoclonal mast cell activation syndrome
Monoclonal mast cell activation syndrome (MMAS) is a rare immunological disorder characterized by recurrent episodes of allergy, flushing, stomach and intestinal cramping, diarrhea, wheezing, fatigue and a temporary loss of consciousness caused by a fall in blood pressure (hypotension). MMAS is very similar to systemic mastocytosis but without the itchy skin patches known as urticaria…
Olmsted syndrome
Olmsted syndrome, also known as mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques, is a very rare congenital (present from birth) disorder causing abnormal growth and thickening of skin. The most common affected areas are the palms of the hand, the soles of the feet, and the area around the eyes and mouth. Other symptoms include…
Myoglobinuria recurrent
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 99845 Definition Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. Epidemiology The exact prevalence remains unknown. Clinical description In…
Neu Laxova syndrome
Neu Laxova syndrome (NLS) is a genetic disorder affecting many parts of the body. Babies born with NLS usually grow poorly during pregnancy (intrauterine growth restriction). At birth, they may be small (low birth weight and short in length) and their facial features are usually different and distinct. The babies may have a small head…
Variant Creutzfeldt-Jakob disease
Variant Creutzfeldt-Jakob disease (vCJD) is a type of Creutzfeldt-Jakob disease (CJD) characterized by early psychiatric symptoms and cognitive decline. All forms of CJD belong to a rare family of progressive neurodegenerative disorders that affect both humans and animals, called prion diseases. The term “prion” refers to abnormal proteins within the brain, called prion proteins. vCJD, described…
Cluttering
Cluttering is a disorder that affects the way a person speaks. It is characterized by a rapid speaking rate and inability to maintain normally expected sound, syllable, phrase, and pausing patterns while speaking. Other symptoms may include stuttering; language or phonological errors (problems organizing sounds); and attention deficits.[1][2] The disorder seems to result from disorganized speech planning, talking…
Oligodendroglioma
Oligodendrogliomas are brain tumors arising from oligodendrocytes, a type of cell that makes up the supportive (glial) tissue of the brain. They can be low-grade (grade II) or high-grade (grade III, also called anaplastic). While they can be found anywhere within the cerebral hemisphere, they are most common in the frontal and temporal lobes. They…
Cogan’s syndrome
Cogan syndrome is a rare autoimmune disease that affects the eyes and inner ears. Symptoms of the syndrome include irritation and pain in the eyes, decreased vision, hearing loss, and vertigo. Other symptoms may include joint or muscle pain or inflammation of the blood vessels.[1] The exact cause of Cogan syndrome is not well-understood. It is thought that the syndrome…
Pyruvate dehydrogenase complex deficiency
Pyruvate dehydrogenase complex (PDC) deficiency is a type of metabolic disease. This means that the body is not able to efficiently break down nutrients in food to be used for energy. Symptoms of PDC deficiency include signs of metabolic dysfunction such as extreme tiredness (lethargy), poor feeding, and rapid breathing (tachypnea). Other symptoms may include…
Phosphoglycerate kinase deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 713 Definition A rare inborn errors of metabolism characterized by variable combinations of non-spherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities. Epidemiology Phosphoglycerate kinase (PGK) deficiency prevalence is unknown but about 30 unrelated…
Otodental dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2791 Definition Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss. Epidemiology Prevalence of this disorder is not known. It has been…
Cone-rod dystrophy amelogenesis imperfecta
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1873 Definition Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI; see this term) and cone-rod retinal dystrophy (CORD; see this term). Epidemiology It has been described in only one family with 29…
Pancreatitis, pediatric
Pediatric pancreatitis is a condition that causes the pancreas to become inflamed in children. Acute refers to conditions that occur suddenly and have a short course. Symptoms of acute pediatric pancreatitis may include stomach pain, persistent vomiting, and fever.[1] Common causes include blunt abdominal injury, structural defects (e.g., pancreas divisum), medications, viruses, and gallstones.[2][1] Acute…
Microvillus inclusion disease
Microvillus inclusion disease is an intestinal disorder characterized by severe, watery diarrhea and an inability of the intestines to absorb nutrients. Symptoms typically develop in the first days (early-onset) or first months (late-onset) of life. Without adequate water and nutrients, children with this condition can become dehydrated, suffer from malnutrition, and fail to grow and develop…
Preauricular sinus
Preauricular sinus is a common birth defect that may be seen during a routine exam of a newborn. It generally appears as a tiny skin-lined hole or pit, often just in front of the upper ear where the cartilage of the ear rim meets the face. It may occur on one side (unilateral) or both sides…
Marfan syndrome
Marfan syndrome is a disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the…
Pustular psoriasis
Pustular psoriasis is a rare form of psoriasis that is characterized by widespread pustules and reddish skin. This condition can occur alone or with plaque-type psoriasis. Most cases of pustular psoriasis are thought to be “multifactorial” or associated with the effects of multiple genes in combination with lifestyle and environmental factors. There are several triggers…
Susac syndrome
Susac syndrome is an autoimmune condition that affects the very small blood vessels in the brain, retina, and inner ear (cochlea). The condition is characterized by three main symptoms: brain disease (encephalopathy), hearing loss, and vision loss. Some people may not have all signs of Susac syndrome, but instead develop only specific combinations of the…
Pituitary hormone deficiency, combined 4
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85442 Definition Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been…
Creeping myiasis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 504 Definition A rare cutaneous myiasis characterized by infestation of humans by the larvae of horse or cattle bot flies. After penetration of the skin, horse bot fly larvae form tunnels in the lower layers…
Hamanishi Ueba Tsuji syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2926 Definition Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs….
STING-associated vasculopathy with onset in infancy
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Primary cutaneous follicle center lymphoma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 178540 Definition A rare, indolent primary cutaneous Bcell lymphoma characterized by a solitary or grouped erythematous plaques or tumors, preferentially located on the head, neck or trunk region, and composed of centroblasts and centrocytes arranged…
Hypothalamic hamartomas
Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas.[1] Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking)…
Schizencephaly
Schizencephaly is a rare congenital (present from birth) brain malformation in which abnormal slits or clefts form in the cerebral hemispheres of the brain. The signs and symptoms of this condition may include developmental delay, seizures, and problems with brain-spinal cord communication. People with schizencephaly may also have an abnormally small head (microcephaly); hydrocephalus; intellectual…
Cutis laxa
Cutis laxa is a connective tissue disorder characterized by skin that is sagging and not stretchy. The skin often hangs in loose folds, causing the face and other parts of the body to have a droopy appearance. Cutis laxa can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints,…
Secondary adrenal insufficiency
Adrenal insufficiency is an endocrine disorder that occurs when the adrenal glands do not produce enough of certain hormones. Secondary adrenal insufficiency occurs when the pituitary gland (a pea-sized gland at the base of the brain) fails to produce enough adrenocorticotropin (ACTH), a hormone that stimulates the adrenal glands to produce the hormone cortisol. The…
Heavy metal poisoning
Heavy metal poisoning refers to when excessive exposure to a heavy metal affects the normal function of the body.[1] Examples of heavy metals that can cause toxicity include lead, mercury, arsenic, cadmium, and chromium.[1] Exposure may occur through the diet, from medications, from the environment, or in the course of work or play.[2] Heavy metals…
Superior limbic keratoconjunctivitis
Superior limbic keratoconjunctivitis (SLK) is a chronic and recurrent eye disease which affects the superior bulbar conjunctiva (the clear layer that covers the eyeball, over the sclera) and tarsal conjunctiva (the clear layer that lines the eyelids), as well as the superior limbic aspect of the cornea (the area above the cornea).[1][2] It is commonly found in…
Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3032 Definition NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of…
Hemi 3 syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2128 Definition Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this…
Marshall syndrome
Marshall syndrome is an inherited condition characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and early-onset arthritis. Those with Marshall syndrome can also have short stature. Some researchers have argued that Marshall syndrome represents a variant form of Stickler syndrome; but this remains controversial.[1] Marshall syndrome is caused by mutations in the COL11A1 gene and…
Tibia absent polydactyly arachnoid cyst
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3328 Definition Tibia absent polydactyly arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia. Epidemiology It has been described in 3 sibs (two males and one…
Rare Cardiology News