Rare Cardiology News
Advertisement
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….
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….
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…
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…
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…
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…
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…
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…
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Acute myelomonocytic leukemia (AMML) is a cancer that typically develops in the bone marrow and blood of older individuals. AMML is one type of acute myeloid leukemia, a group of blood cancers that occur when the amount of white blood cells increases rapidly. Symptoms of AMML often include fatigue (due to anemia) or easy bruising or bleeding…
Autosomal dominant cerebellar ataxia
Autosomal dominant cerebellar ataxia (ADCA) is one of the genetic subtypes of hereditary ataxia. Although the signs and symptoms vary depending on the specific type, the most common symptom of ADCA is poor movement coordination (ataxia) especially a jerky, unsteady walking style (gait). Coordination of hands and clearness of speech (dysarthria) are also affected. The…
Adult neuronal ceroid lipofuscinosis
Adult neuronal ceroid lipofuscinosis is a rare condition that affects the nervous system. Signs and symptoms usually begin around age 30, but they can develop anytime between adolescence and late adulthood. There are two forms of adult neuronal ceroid lipofuscinosis that are differentiated by their underlying genetic cause, mode of inheritance and certain symptoms:[1][2][3] Type…
Juvenile-onset dystonia
Juvenile-onset dystonia is a form of dystonia, which is a movement disorder characterized by involuntary muscle contractions that cause repetitive movements and/or abnormal postures. The severity and frequency of the movements vary significantly; in some affected people, they may be barely noticeable while in others, the movements are severely disabling and painful. Dystonia can affect…
Loiasis
empty
Epidermolysa bullosa simplex with muscular dystrophy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 257 Definition Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy. Epidemiology Prevalence is unknown, but more…
Alternating hemiplegia of childhood
Alternating hemiplegia of childhood (AHC) is a neurological disorder that usually affects children before 18 months of age. Classic AHC causes recurrent episodes of paralysis (hemiplegia) that involve one or both sides of the body, multiple limbs, or a single limb. The paralysis may affect different parts of the body at different times and may be brief or last for…
Pituitary stalk interruption syndrome
Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary gland characterized by the triad of a very thin or interrupted pituitary stalk, a misplaced (ectopic) or absent posterior pituitary and a small or absent anterior pituitary, with permanent growth hormone (GH) deficit.[1][2] Signs and symptoms in newborns include low blood sugar levels (hypoglycemia),…
Trichostasis spinulosa
Trichostasis spinulosa (TS) is a condition where instead of one hair protruding from a hair follicle, a bundle or bush of hair come out of a single follicle. This results in elevated, dark spiny papules on the head, face (usually the nose), and trunk. In this condition, there are numerous tiny open pores filled with…
Endometrial stromal sarcoma
Endometrial stromal sarcoma is a rare form of cancer that occurs due to abnormal and uncontrolled cell growth in the uterus. Endometrial stromal sarcoma, specifically, develops in the supporting connective tissue (stroma) of the uterus. Signs and symptoms of the condition include abnormal uterine bleeding (i.e. bleeding that is not part of menstrual periods or…
Alopecia-contractures-dwarfism-intellectual disability syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1005 Definition A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual…
Eosinophilic pustular folliculitis
Eosinophilic pustular folliculitis (EPF) is a skin disorder characterized by recurring itchy, red or skin-colored bumps and pustules (bumps containing pus).[1] The condition is named after the fact that skin biopsies of this disorder find eosinophils (a type of immune cell) around hair follicles. The papules mostly appear on the face, scalp, neck and trunk and may…
Autosomal recessive Alport syndrome
Autosomal recessive Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence.[1][2] The eye abnormalities seen in this condition seldom lead…
Pseudoneonatal adrenoleukodystrophy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2971 Definition Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in…
Keratolytic winter erythema
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 50943 Definition Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and…
Ampola syndrome
empty
Pili torti developmental delay neurological abnormalities
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2891 Definition Pili tortidevelopmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous…
Imperforate anus
Imperforate anus is a birth defect where the opening to the anus is missing or blocked. The anus, also known as the rectum, is the opening at the end of the intestines through which stool (bowel movement) leaves the body. Imperforate anus may end in a pouch, be too narrow (stenotic or atresic), or open into…
Fatty acid hydroxylase-associated neurodegeneration
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 329308 Definition Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia,…
X-linked sideroblastic anemia
X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough hemoglobin. People with X-linked sideroblastic anemia have mature red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemoglobin. This disorder also leads to an abnormal accumulation of iron in…
Preaxial polydactyly type 4
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93338 Definition Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad,…
5-alpha reductase deficiency
5-alpha reductase deficiency is an inherited condition that primarily affects male sexual development before birth and during puberty. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes). Their bodies, however, do not produce enough of a hormone called dihydrotestosterone (DHT), which is…
Gillespie syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1065 Definition A rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability. Epidemiology To date, less than 30 patients have been reported in the literature….
Marcus Gunn phenomenon
Marcus Gunn phenomenon is a rare condition characterized by movement of the upper eyelid in a rapid rising motion (a “wink”) each time the jaw moves.[1] The wink phenomenon may be elicited by opening the mouth, thrusting the jaw to the side, jaw protrusion, chewing, smiling, or sucking.[2] It is usually present at birth and…
Proliferative verrucous leukoplakia
Proliferative verrucous leukoplakia (PVL) is a rare type of oral leukoplakia, where white patches that have a high risk of becoming cancerous develop inside the mouth. It mainly involves the lining inside of the cheeks (buccal mucosa) and tongue. It starts as a white plaque of thickened skin (hyperkeratosis) that eventually spreads and forms rough,…
Pulmonary sequestration
Pulmonary sequestration is a rare congenital (present from birth) malformation where non-functioning lung tissue is separated from the rest of the lung and supplied with blood from an unusual source, often an artery from systemic circulation.[1][2][3][4] Pulmonary sequestrations may be defined as intralobular or extralobular, depending on their location.[2][3][4] Symptoms may include a chronic or recurrent cough, respiratory distress or lung infection.[3] Treatment depends on…
Sutton disease 2
Sutton disease 2, also known as recurrent aphthous stomatitis, is a chronic inflammatory disease characterized by painful ulcers in the mouth.[1][2] These sores, which can be of varying size and frequency, are commonly called canker sores. The exact cause of this condition is not fully understood, although it may be due to an abnormal immune response.[2]…
Tight skin contracture syndrome, lethal
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1662 Definition A congenital genodermatosis with skin/mucosae involvement, characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and…
Renal tubular acidosis with deafness
Renal tubular acidosis with deafness is characterized by kidney (renal) problems and sensorineural hearing loss. Infants with this condition may have problems with feeding and gaining weight (failure to thrive). Most children and adults with the condition have short stature, and many develop kidney stones. Other less common features include a softening and weakening of…
Roch-Leri mesosomatous lipomatosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 529 Definition Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third…
Fine-Lubinsky syndrome
Fine-Lubinsky syndrome (FLS) is a very rare syndrome that affects various parts of the body. Signs and symptoms can vary and may include brachycephaly or plagiocephaly; structural brain abnormalities; abnormal EEG; intellectual disability; deafness; eye conditions (cataracts or glaucoma); distinctive facial features; and body asymmetry. The underlying cause of FLS remains unknown. Almost all cases…
Sacrococcygeal Teratoma
A sacrococcygeal teratoma is a tumor that grows at the base of the spine in a developing fetus. It occurs in one in 40,000 newborns and girls are four times more likely to be affected than boys. Though it is usually benign, there is a possibility that the teratoma could become malignant. As such, the recommended…
Focal task-specific dystonia
Focal task-specific dystonia (FTSD) is a movement disorder that is localized to a specific part of the body. The dystonias are a group of movement problems characterized by involuntary, sustained muscle contractions, tremors, and other uncontrolled movements. FTSD interferes with the performance of particular tasks, such as writing, playing a musical instrument, or participating in a…
Spinocerebellar ataxia 28
Spinocerebellar ataxia 28 (SCA28)is a slowly progressive movement disorder that typically begins in early adulthood (but can affect children and older adults as well). Early signs and symptoms include problems with coordination and balance when walking (gait ataxia), speech and swallowing difficulties (dysarthria), over-reactive reflex reactions in knees and ankles (hyperreflexia), weakness in the muscles…
Malignant hyperthermia
Malignant hyperthermia (MH) is a severe reaction to certain gases used during anesthesia and/or a muscle relaxant used to temporarily paralyze a person during surgery. Signs and symptoms of MH include marked hyperthermia, a rapid heart rate, rapid breathing, acidosis, muscle rigidity, and breakdown of muscle tissue (rhabdomyolysis). Without prompt treatment, MH can be life-threatening. People who…
Infantile digital fibromatosis
empty
Selective IgM deficiency
Selective IgM deficiency (SIgMD) is a rare immune disorder in which a person has no immunoglobulin M (IgM) antibodies, or too little IgM, with normal levels of IgG and IgA antibodies.[1][2] IgM is the first antibody the immune system makes to fight a new infection.[3] Therefore, when a person does not have enough IgM, the body…
Temple-Baraitser syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 420561 Definition Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic…
Menetrier disease
Ménétrier disease is a gastrointestinal condition characterized by overgrowth of the mucous cells (foveola) in the mucous membrane lining the stomach, causing enlarged gastric folds.[1] This leads to excessive mucus production, causing protein loss from the stomach and low or absent levels of stomach acid.[2] Symptoms may include pain in the upper middle region of…
Spastic paraplegia 2
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 99015 Definition A rare, X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred…
Geroderma osteodysplastica
Geroderma osteodysplastica is a rare disease characterized by lax, wrinkled skin, loose joints and a typical face with a prematurely aged appearance. Bone problems may include severe osteoporosis leading to frequent fractures, underdeveloped cheekbones and jaw (malar and mandibular hypoplasia) and a variable degree of growth deficiency. This condition is caused by mutations in the…
Rare Cardiology News