Rare Hematology News
Advertisement
Epidermolysis bullosa acquisita
Epidermolysis bullosa acquisita (EBA) is a rare autoimmune disorder that causes the skin to blister in response to minor injury. Common areas of blistering include the hands, feet, knees, elbows, and buttocks. It can also affect the mouth, nose, and eyes. Some affected people have other health problems such as Crohn’s disease, systemic lupus erythematosus,…
Diffuse neonatal hemangiomatosis
empty
Acromegaloid facial appearance syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 965 Definition A rare multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and,…
Syndrome of inappropriate antidiuretic hormone
Syndrome of inappropriate antidiuretic hormone (SIADH) occurs when an excessive amount of antidiuretic hormone is released resulting in water retention and a low sodium level. It is most common among older people. It has many causes including, but not limited too, pain, stress, exercise, a low blood sugar level, certain disorders of the heart, thyroid…
Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 402020 Definition A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes…
AP-4-Associated Hereditary Spastic Paraplegia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 280763 Definition Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly,…
Hereditary proximal myopathy with early respiratory failure
empty
Dysplasia epiphysealis hemimelica
Dysplasia epiphysealis hemimelica (DEH), or Trevor’s disease, is a rare condition that most commonly affects the epiphysis (the end) of long bones in children.[1][2] Early diagnosis and treatment are necessary to prevent joint dysfunction and deformity and may be surgical or non-surgical depending on the location and the symptoms.[3][4] Due to the progressive nature of this disorder and…
Adult polyglucosan body disease
Adult polyglucosan body disease (APBD) affects the nervous system.[1] People with this disease usually begin to show signs after the age of 40.[2] Signs and symptoms include trouble walking due to peripheral neuropathy and muscle weakness and stiffness. People with APBD also develop problems with bladder control due to damage to the bladder’s nerves (neurogenic bladder)….
Episodic ataxia
Episodic ataxia refers to a group of conditions that affect the central nervous system.[1] It affects specific nerve fibers that carry messages to and from the brain in order to control body movement.[1] The condition causes episodes of poor coordination and balance (ataxia).[2] Episodes may last from a few seconds to several hours.[1] During an episode, affected…
Toriello-Carey syndrome
Toriello-Carey syndrome is a rare condition characterized by multiple congenital anomalies. Signs and symptoms can vary but may include distinctive craniofacial features, brain abnormalities, Pierre Robin sequence, swallowing difficulties, heart defects, low muscle tone (hypotonia), and moderate to severe intellectual disability.[1] The genetic cause is not fully understood, but there is evidence it may be caused…
Ectodermal dysplasia Berlin type
empty
Elizabethkingia anophelis infection
Elizabethkingia anophelis infection is a condition caused by the bacterium, Elizabethkingia anophelis. Signs and symptoms of the infection include fever, shortness of breath, chills, or cellulitis. The bacteria can also cause respiratory tract illness, septicemia (bloodstream infection), and meningitis. Most affected people have other serious underlying health problems that may cause a weakened immune system….
Polyostotic osteolytic dysplasia, hereditary expansile
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85195 Definition A rare primary bone dysplasia characterized by abnormal bone metabolism with bone pain, deformity, pathological fractures, early conductive hearing loss, and dental abnormalities. Focal bone lesions are typically found in the appendicular skeleton…
Alopecia, epilepsy, pyorrhea, mental subnormality
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1008 Definition A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and…
Alveolar capillary dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 210122 Definition Congenital alveolar capillary dysplasia (ACD) is a rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension. Visit the Orphanet disease page…
Erythromelalgia
Erythromelalgia (EM) is a rare condition characterized by episodes of burning pain, warmth, swelling and redness in parts of the body, particularly the hands and feet. This condition may occur spontaneously (primary EM) or secondary to neurological diseases, autoimmune diseases, or myeloproliferative disorders (secondary EM). Episodes may be triggered by increased body temperature, alcohol, and…
Exogenous ochronosis
Exogenous ochronosis (EO) refers to the bluish-black discoloration of areas of the skin, especially the face, ear cartilage, the ocular (eye) tissue, and other body locations. It occurs as the result of exposure to malarial drugs, skin lightening creams and over-exposure the the sun.[1] Other than the skin discoloration, there are no other health effects. EO does…
Quebec platelet disorder
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 220436 Definition Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds. Visit the Orphanet…
Anemia sideroblastic and spinocerebellar ataxia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2802 Definition X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare syndromic, inherited form of sideroblastic anemia (see this term) characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, nonor slowly progressive…
Familial hyperthyroidism due to mutations in TSH receptor
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 424 Definition A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history. Visit the Orphanet disease page for…
Zori Stalker Williams syndrome
empty
Ataxia with oculomotor apraxia type 1
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1168 Definition A rare autosomal recessive cerebellar ataxia, characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia. Epidemiology Ataxia-oculomotor apraxia type 1 (AOA1) represents 3.6% of all autosomal recessive cerebellar ataxia…
Bell’s palsy
Bell’s palsy is a form of temporary facial paralysis which results from damage or trauma to one of the facial nerves. This disorder is characterized by the sudden onset of facial paralysis that often affects just one side and can cause significant facial distortion. Symptoms vary, but may include twitching, weakness, drooping eyelid or corner of…
Siegler Brewer Carey syndrome
empty
Fibrodysplasia ossificans progressiva
Fibrodysplasia ossificans progressiva (FOP) is a disorder in which skeletal muscle and connective tissue, such as tendons and ligaments, are gradually replaced by bone (ossified). This condition leads to bone formation outside the skeleton (extra-skeletal or heterotopic bone) that restricts movement. This process generally becomes noticeable in early childhood, starting with the neck and shoulders and moving down the body…
Arginase deficiency
Arginase deficiency is an inherited metabolic disease in which the body is unable to process arginine (a building block of protein).[1][2] It belongs to a group of disorders known as urea cycle disorders. These occur when the body’s process for removing ammonia is disrupted, which can cause ammonia levels in the blood to rise (hyperammonemia). In…
Hemifacial microsomia
Hemifacial microsomia (HFM) is a condition in which part of one side of the face is underdeveloped and does not grow normally. The eye, cheekbone, lower jaw, facial nerves, muscles, and neck may be affected.[1][2][3] Other findings may include hearing loss from underdevelopment of the middle ear; a small tongue; and macrostomia (large mouth).[3] HFM…
Free sialic acid storage disease
Free sialic acid storage diseases are inherited conditions that lead to progressive neurological damage. There are three forms of free sialic acid storage diseases; an infantile form, an intermediate severe form and Salla disease. The infantile form is the most severe, with symptoms appearing before birth or soon after. Salla disease is the least severe…
GM1 gangliosidosis type 2
GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). Although…
Rhabdoid tumor
Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor. RT usually occurs in infancy or childhood. In most cases, the first symptoms are linked…
Gemignani syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2074 Definition Gemignani syndrome is a rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized…
Brachyolmia type 3
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93304 Definition A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints…
Globozoospermia
Globozoospermia is a rare form of male infertility. Men affected by this condition have abnormal sperm with a round (rather than oval) head and no acrosome (a cap-like covering which contains enzymes that break down the outer membrane of an egg cell). As a result of these abnormalities, the sperm are unable to fertilize an…
Spinocerebellar ataxia autosomal recessive 3
empty
Osteopetrosis autosomal recessive 1
Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth.[1][2] Symptoms and severity can vary greatly, ranging from neonatal onset with life-threatening complications (such as bone marrow failure) to the incidental finding of osteopetrosis on X-ray. Depending on severity and age of onset, features may include fractures, short stature,…
Granuloma annulare
Granuloma annulare (GA) is skin disorder that most often causes a rash with red bumps (erythematous papules) arranged in a circle or ring pattern (annular).[1][2][3] GA is not contagious and is not cancerous.[2] The rash may be localized or generalized. Localized GA is the most common form of GA (75% of the cases) and usually…
Posterior column ataxia with retinitis pigmentosa
Posterior column ataxia with retinitis pigmentosa (PCARP) is a genetic condition that affects vision and the nervous system. It is characterized by a loss of cells in the light sensitive tissue in the back of the eye (retinitis pigmentosa), abnormalities in the body’s unconscious perception of movement and spatial orientation (proprioception), and muscle weakness and…
Mastocytosis cutaneous with short stature conductive hearing loss and microtia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2135 Definition Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one…
Bannayan-Riley-Ruvalcaba syndrome
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a genetic condition that leads to the growth of both non-cancerous and cancerous tumors. Symptoms of BRRS may include large head size, increased birth weight, developmental delay, and intellectual disability. Other symptoms include the appearance of non-cancerous tumors in the digestive system, fatty tumors under the skin, and freckles on the…
Barrett esophagus
Barrett esophagus is a condition in which the lining of the esophagus (the tube that carries food from the throat to the stomach) is replaced by tissue that is similar to the lining of the intestines. Although this change does not cause any specific signs or symptoms, it is typically diagnosed in people who have…
Brachydactyly type A1
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93388 Definition Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges. Epidemiology Only a few pedigrees…
Camptocormism
Camptocormia, camptocormism or “bent spine syndrome,” (BSS) is an extreme forward flexion of the thoracolumbar spine, which often worsens during standing or walking, but completely resolves when laying down. The term itself is derived from the Greek “kamptos” (to bend) and “kormos” (trunk) BSS was initially considered, especially in wartime, as a result of a psychogenic…
Biemond syndrome 2
empty
Right ventricle hypoplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 439 Definition Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation (see this term) characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication (see these terms) and…
Blepharoptosis myopia ectopia lentis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1259 Definition This syndrome is characterised by bilateral congenital blepharoptosis, ectopia lentis and high myopia. Epidemiology It has been described in three members of one family (in a mother and her two daughters). Genetic counseling…
Multicentric Castleman Disease
Multicentric Castleman disease (MCD) is a rare disease that affects the lymph nodes and related tissues. It is a form of Castleman disease that is “systemic” and involves multiple regions of lymph nodes (as opposed to unicentric Castleman disease, which involves a single lymph node or single region of lymph nodes). The signs and symptoms…
Brachydactyly Mononen type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2565 Definition Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild…
Imperforate oropharynx-costo vetebral anomalies
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2759 Definition Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs,…
Bradyopsia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 75374 Definition Bradyopsia is characterised by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia. Epidemiology It has been described in five unrelated patients with symptoms…
PPM-X syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3077 Definition An X-linked syndromic intellectual disability characterized by developmental delay, variable degree of intellectual disability, speech delay or absent speech, pyramidal signs, tremor, macroorchidism and variable mood and behavior problems, including psychosis and autistic-like…
Osteofibrous dysplasia
Osteofibrous dysplasia is a rare, non-cancerous (benign) tumor that affects the long bones. It usually develops in children and adolescents. The most common location is the middle part of the tibia (shin), although the fibula (a smaller bone in the calf) and the long bones in the arm (humerus, radius, or ulna) may also be…
Kennedy disease
Kennedy disease is a gradually progressive, neuromuscular disorder characterized by wasting of the proximal muscles (those closer to the trunk) and bulbar muscles (those of the face and throat).The condition mainly affects males, with onset between the ages of 30 and 60.[1] Early symptoms may include tremor, muscle cramps, and muscle twitching. This is followed…
Cabezas syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85293 Definition An X-linked syndromic intellectual disability characterized by developmental delay, intellectual disability with significant speech impairment, and short stature in male patients. Variable additional clinical features have been associated, including macrocephaly, seizures, tremor, gait…
Osteopenia and sparse hair
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2324 Definition Kaler-Garrity-Stern syndrome is a rare syndrome, described in two sisters of Mennonite descent, characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions…
CANOMAD syndrome
CANOMAD syndrome is a rare chronic immune-mediated demyelinating polyneuropathy. CANOMAD stands for Chronic Ataxic Neuropathy Ophthalmoplegia IgM paraprotein Cold Agglutinins Disialosyl antibodies. Signs and symptoms of CANOMAD may include loss of muscle, tendon, and joint sensation, abnormal gait (walk), ataxia, tingling sensation on the skin around the mouth or extremities, paralysis of eye muscles, difficulty swallowing…
Spastic paraplegia 15
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100996 Definition Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar…
Carbamoyl phosphate synthetase 1 deficiency
Carbamoyl phosphate synthetase I deficiency (CPS1 deficiency) is a genetic disorder that causes episodes of toxic levels of ammonia in the blood (hyperammonemia). Symptoms include poor feeding, vomiting, lack of energy, low body temperature and weak muscle tone. These usually occur in the first few days of life. High levels of ammonia can lead to complications…
Legionnaires’ disease
Legionnaires’ disease is a severe type of pneumonia caused by the bacteria Legionella.[1] The species Legionella pneumophila causes most cases, but other species of Legionella can also cause the disease. It is named Legionnaires’ disease because it was first discovered after a pneumonia outbreak among people who attended an American Legion Convention in Philadelphia, Pennsylvania…
Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyltransferase I deficiency (CPT1A deficiency) is an inherited metabolic condition that prevents the body from converting certain fats (long-chain fatty acids) into energy, particularly during periods without food. Carnitine, a natural substance acquired mostly through the diet, is required by cells to process fats and produce energy. Symptoms of this condition often appear early in life…
Familial caudal dysgenesis
empty
Logopenic progressive aphasia
Logopenic progressive aphasia (LPA) is a type of dementia characterized by language disturbance, including difficulty making or understanding speech (aphasia). It is a type of primary progressive aphasia (PPA). Affected individuals have slow, hesitant speech due to difficulty retrieving the correct words, names, or numbers. Difficulty with phase and sentence repetition are additionally present. Speech is typically well…
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 66631 Definition CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Epidemiology It has been described so far in seven affected individuals (four…
Lucey-Driscoll syndrome
Lucey-Driscoll syndrome, also known as transient familial hyperbilirubinemia, is a rare condition that leads to very high levels of bilirubin in a newborn’s blood. Bilirubin comes from the breakdown of red blood cells and is handled by the liver. Babies with this condition may be born with jaundice, causing yellow skin, yellow eyes and excess sleepiness (lethargy). The cause of Lucey-Driscoll…
Central pain syndrome
Central pain syndrome (CPS) is a rare neurological disorder caused by damage to or dysfunction of the pain-conducting pathways of the central nervous system (in the brain, brainstem, and spinal cord). Symptoms of CPS can vary greatly from one person to another, partly because the cause may differ. Primary symptoms are pain and loss of sensation, usually…
Macrosomia with lethal microphthalmia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2432 Definition Macrosomia-microphthalmiacleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead,…
Rare Hematology News