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Somatostatinoma
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FACES syndrome
FACES syndrome, also known as Friedman-Goodman syndrome, is a condition that is characterized by unique Facial features, Anorexia, Cachexia (body wasting) and Eye and Skin lesions. The pattern of inheritance and underlying genetic cause of FACES syndrome has not yet been established. FACES syndrome has only been reported in three members of the same family.[1]
Annular lichen planus
Annular lichen planus (LP) is a rare form of lichen planus, which is a condition that affects the skin and/or mouth. In annular LP, specifically, affected people develop ring-shaped, slightly raised, purple lesions with no central atrophy (tissue breakdown). Purely annular LP is very rare; however, annular lesions occur in approximately 10% of all cases of lichen…
Orthostatic intolerance due to NET deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 443236 Definition A rare, genetic, primary orthostatic disorder characterized by dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position, in the absence of hypotension. A syncope with…
Congenital herpes simplex
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 293 Definition Congenital herpes virus infection is a group of anomalies that an infant may present as a result of maternal infection and subsequent foetal infection with herpes virus. This virus causes recurrent cutaneous infections…
Wells-Jankovic syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2815 Definition A rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiochokinesia, elevated cerebrospinal fluid…
Danon disease
Danon disease is a rare genetic condition characterized by weakening of the heart muscle (cardiomyopathy), weakening of the muscles used for movement (skeletal muscles myopathy), and intellectual disability.[1][2] This condition is a type of lysosomal storage disorder.[3] Lysosomes are compartments within the cell that use enzymes to break down large molecules into smaller ones that the cell…
Femur bifid with monodactylous ectrodactyly
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1986 Definition A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. Epidemiology Approximately 200 cases have been reported worldwide. Clinical description The malformation…
Autoimmune polyglandular syndrome type 3
Autoimmune polyglandular syndrome (APS) type 3 is an autoimmune condition that affects the body’s endocrine glands. The syndrome, which typically affects women during middle age, results from failure of the glands to produce their hormones. This condition is characterized by autoimmune thyroiditis along with another organ-specific autoimmune disease.[1][2][3] The other autoimmune diseases may include diabetes mellitus, pernicious anemia, vitiligo, alopecia,…
Fetal methylmercury syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1917 Definition A rare disorder characterized by a group of symptoms that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury. Epidemiology Accidents have…
Autosomal recessive distal renal tubular acidosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 402041 Definition An inherited form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed….
Melhem Fahl syndrome
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Freeman-Sheldon syndrome
Freeman-Sheldon syndrome (FSS) affects the development of the bones, joints, head, and face. Symptoms of FSS are present from birth, and include abnormally flexed joints (joint contractures), spine abnormalities, and a characteristic facial appearance. People with FSS have a small mouth (microstomia) with pursed lips, giving the appearance of a “whistling face”. In addition, they may…
Prolactinoma
Prolactinoma is a tumor of the pituitary gland that causes increased levels of the hormone prolactin. This hormone normally stimulates breast development and milk production in women. Prolactinoma can affect men or women. In women, the symptoms may include unusual milk production (galactorrhea) when not pregnant or nursing and having no menstrual cycles (amenorrhea). In…
Ganglioglioma
A ganglioglioma is a rare type of brain tumor, accounting for approximately 1% of all brain tumors.[1] Gangliogliomas occur when a single cell in the brain starts to divide into more cells, forming a tumor.[2] This can occur when the cell randomly acquires changes (mutations) in genes that regulate how a cell divides. Most gangliogliomas grow slowly…
Autoimmune atrophic gastritis
Autoimmune atrophic gastritis is a chronic inflammatory disease in which the immune system mistakenly destroys a special type of cell (parietal cells) in the stomach. Parietal cells make stomach acid (gastric acid) and a substance our body needs to help absorb vitamin B12 (called intrinsic factor). The progressive loss of parietal cells may lead to iron deficiency…
Serpiginous choroiditis
Serpiginous choroiditis is a rare inflammatory eye condition that typically develops between age 30 and 70 years.[1] Affected individuals have lesions in the eye that last from weeks to months and involve scarring of the eye tissue.[2] Recurrence of these lesions is common in serpiginous choroiditis. Vision loss may occur in one or both eyes when the macula is involved. [3] Treatment options involve…
I cell disease
Mucolipidosis II (ML II), also known as I cell disease, is a rare and progressive metabolic disorder that involves our body’s ability to break down certain fats (mucolipids).[1] Symptoms typically present in infancy or early childhood and include weak muscle tone (hypotonia), developmental delay, limited mobility, clubfeet, thickened skin, and short hands and fingers.[2] ML II…
Griscelli syndrome type 1
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B4GALT1-CDG (CDG-IId)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79332 Definition B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with…
Lymphedema-distichiasis syndrome
Lymphedema-distichiasis syndrome is a condition that affects the normal function of the lymphatic system (part of the immune system that produces and transports fluids and immune cells throughout the body). People with this syndrome have extra eyelashes (distichiasis) and develop puffiness or swelling (lymphedema) of the limbs, most often the legs and feet. The abnormal eyelashes,…
Hernández-Aguirre Negrete syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2139 Definition Hernández-Aguirre Negrete syndrome is characterized by major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys…
BENTA disease
BENTA disease (B cell Expansion with NF-κB and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several…
Mowat-Wilson syndrome
Mowat-Wilson syndrome (MWS) is a rare genetic disorder that affects many systems of the body. Some of the main features include intellectual disability, distinctive facial features, delayed development, and Hirschsprung disease. Other features may include microcephaly, structural brain abnormalities, epilepsy, short stature, and defects of the heart, urinary tract, or genitalia.[1][2] MWS is caused by a mutation in the ZEB2…
Behavioral variant of frontotemporal dementia
Pick’s disease is a neurological condition characterized by a slowly progressive deterioration of behavior, personality, or language.[1] People with Pick’s disease have abnormal substances (called Pick bodies) inside nerve cells in the damaged areas of the brain. Pick bodies contain an abnormal form of a protein called tau. This protein is found in all nerve cells, but…
Best vitelliform macular dystrophy
Best vitelliform macular dystrophy (BVMD) is a slowly progressive form of macular degeneration. It usually begins in childhood or adolescence, but age of onset and severity of vision loss can vary. Affected people first have normal vision, followed by decreased central visual acuity and distorted vision (metamorphopsia). Peripheral vision is not affected.[1] BVMD is characterized…
Lenz Majewski hyperostotic dwarfism
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2658 Definition An extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis. Epidemiology Nine cases have been reported in the literature. Clinical description Marked hypertelorism and broad forehead are noted…
Kluver Bucy syndrome
Kluver Bucy syndrome is a rare behavioral impairment characterized by inappropriate sexual behaviors and mouthing of objects. Other signs and symptoms, include a diminished ability to visually recognize objects, loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. It is associated with damage to the anterior temporal lobes of the brain. Cases have been reported in association with herpes…
Hypoganglionosis
Hypoganglionosis, also known as intestinal hypoganglionosis, is a disorder causing a reduced number of nerves in the intestinal wall. Intestinal hypoganglionosis can mimic Hirschsprung disease; patients with both conditions may present with chronic constipation, intestinal obstruction, and enterocolitis (inflammation of the intestines).[1][2] Patients with hypoganglionosis may also suffer from severe complications including fecaloma (hardening of…
Cole Carpenter syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2050 Definition An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and…
Sclerosing mesenteritis
Sclerosing mesenteritis is one of many terms that describes a spectrum of inflammatory disorders that affect the mesentery. The mesentery is the membrane that anchors the small intestine to the back of the abdominal wall.[1][2][3] The condition mostly affects men between their 40s and 60s, but women and children can also be affected. It may result…
Brachioskeletogenital syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1299 Definition Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and…
IVIC syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2307 Definition IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss. Epidemiology Prevalence of…
Trichothiodystrophy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 33364 Definition Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins). Epidemiology The exact prevalence of TTD is…
Linear nevus sebaceous syndrome
Linear nevus sebaceous syndrome (LNSS) is a condition characterized by the association of a large, linear sebaceous nevus (type of birthmark) with a broad range of abnormalities that may affect every organ system, including the central nervous system (CNS).[1] The nevus usually is located on the face, scalp, or neck.[1][2] The most common CNS abnormalities…
Hyperphenylalaninemia due to dehydratase deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1578 Definition Dehydratase deficiency or pterin-4 alpha-carbinolamine dehydratase (PCD) is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (see this term), characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition…
Karyomegalic interstitial nephritis
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Camptodactyly syndrome Guadalajara type 3
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Palmoplantar keratoderma
Palmoplantar keratoderma (PPK) is a group of skin conditions characterized by thickening of the skin on the palms of the hands and soles of the feet. PPK can also be a feature of various underlying syndromes.[1] In rare forms of PPK, organs other than the skin may also be affected. PPK can be either acquired during…
Systemic capillary leak syndrome
Systemic capillary leak syndrome (SCLS) is a condition in which fluid and proteins leak out of tiny blood vessels, into surrounding tissues. This can result in dangerously low blood pressure (hypotension), hypoalbuminemia, and a decrease in plasma volume (hemoconcentration).[1][2] Initial symptoms may include fatigue, nausea, abdominal pain, extreme thirst, and sudden increase in body weight. Episodes of SCLS…
Peters plus syndrome
Peters plus syndrome (PPS) affects many different parts of the body. The most common affected parts are the eyes. PPS causes abnormal development of the structures in the front of the eye, known as Peters anomaly. Other symptoms include limited growth, short limbs, cleft lip and/or palate, distinctive face, and developmental or intellectual disability. Less common symptoms…
SSR4-CDG
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 370927 Definition SSR4-CDG is a form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial…
Wallenberg syndrome
Wallenberg syndrome is a condition that affects the nervous system. Signs and symptoms may include swallowing difficulties, dizziness, hoarseness, nausea and vomiting, nystagmus, and problems with balance. Some people have uncontrollable hiccups, loss of pain and temperature sensation on one side of the face, and/or weakness or numbness on one side of the body. Wallenberg syndrome…
Spondylometaphyseal dysplasia Sedaghatian type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93317 Definition Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly. Epidemiology Nine cases have been…
Liddle syndrome
Liddle syndrome is a rare, inherited condition that is primarily characterized by severe high blood pressure (hypertension) that often develops at an early age. Although the condition may not be associated with signs and symptoms initially, untreated hypertension can eventually lead to heart disease or stroke. Affected people may also have low levels of potassium…
Timothy syndrome
Timothy syndrome is a disorder that affects the heart, digits (toes and fingers), and nervous system (brain and nerves). It is a type of long QT syndrome. Long QT syndrome refers to a prolonged QT interval measurement seen on the electrocardiogram. Symptoms of Timothy syndrome include fusion of the skin between fingers or toes (syndactyly), distinctive facial features,…
Central neurocytoma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 73256 Definition Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those…
Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1574 Definition Retinal degeneration-nanophthalmosglaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family….
Spastic diplegia cerebral palsy
Spastic diplegia cerebral palsy is a form of cerebral palsy, a neurological condition that usually appears in infancy or early childhood, and permanently affects muscle control and coordination. Affected people have increased muscle tone which leads to spasticity (stiff or tight muscles and exaggerated reflexes) in the legs. The arm muscles are generally less affected…
Malonyl-CoA decarboxylase deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 943 Definition Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD). Epidemiology It is a very rare disorder that has been described in less than 20 patients. Clinical description This condition…
Charcot-Marie-Tooth disease type 2F
Charcot-Marie-Tooth disease type 2F (CMT2F) is a genetic disorder of the peripheral nerves. The subtypes of CMT type 2 (including type 2F) have similar features and are distinguished only by their disease-causing genes. Signs and symptoms usually begin between the ages of 5 and 25 and typically include slowly progressive weakness and atrophy of distal muscles…
Mast cell activation syndrome
Mast cell activation syndrome (MCAS) causes a person to have repeated severe allergy symptoms affecting several body systems. In MCAS, mast cells mistakenly release too many chemical agents, resulting in symptoms in the skin, gastrointestinal tract, heart, respiratory, and neurologic systems. Mast cells are present throughout most of our bodies and secrete different chemicals during…
Chester porphyria
Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP). Chester porphyria does not conform to any of the recognized types of acute porphyria. The symptoms associated with Chester porphyria are similar to those observed in…
Muscle eye brain disease
Muscle eye brain disease (MEB) belongs to a group of genetic, degenerative muscular disorders that are present from birth (congenital muscular dystrophy).[1][2] Individuals with this condition are born with muscle weakness (hypotonia), severe nearsightedness (myopia), glaucoma, and brain abnormalities. They also have developmental delay and intellectual disability, a buildup of fluid in the brain (hydrocephalus), and…
OSMED Syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1427 Definition Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies. Epidemiology The…
Chromosome 11q deletion
Chromosome 11q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 11. 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…
17q23.1q23.2 microdeletion syndrome
17q23.1q23.2 microdeletion syndrome is a condition caused by a small deletion of genetic material from chromosome 17. The deletion occurs at a location encompassing bands 23.1 to 23.2 on the long (q) arm of the chromosome. People with 17q23.1q23.2 microdeletion syndrome may have developmental delay, microcephaly, short stature, heart defects and limb abnormalities. Most cases are approximately 2.2 Mb…
Chromosome 1p duplication
Chromosome 1p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 1. 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…
Mosaic variegated aneuploidy syndrome
Mosaic variegated aneuploidy (MVA) syndrome is a very rare condition characterized by problems with cell division (specifically during mitosis) that results in a high number of cells with missing (monosomy) or extra (trisomy) genetic material in multiple chromosomes and tissues (mosaic aneuploidies).[1][2] Only about 50 cases have been described in the medical literature.[1][3] Features include severe…
Chromosome 5p duplication
Chromosome 5p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 5. 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…
Chromosome 9p duplication
Chromosome 9p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 9. 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…
Chudley Rozdilsky syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3068 Definition Intellectual disability-myopathyshort stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature,…
Nephrogenic Systemic Fibrosis
Nephrogenic systemic fibrosis is a condition that affects different parts of the body, particularly the skin. Symptoms of the condition may include progressive swelling and tightening of the skin, sometimes resulting in contractures, and pruritis (itching). The skin findings are similar to those seen in patients with scleroderma. Nephrogenic systemic fibrosis was first described in 1997.[1] Being exposed to gadolinium-containing contrast…
Tarsal tunnel syndrome
Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the…
Tethered cord syndrome
Tethered cord syndrome is a rare neurological condition. The severity of the condition and the associated signs and symptoms vary from person to person. In some cases, symptoms may be present at birth (congenital), while others may not experience symptoms until later in adulthood. Features of the condition may include foot and spinal abnormalities; weakness…
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