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Chorea-acanthocytosis
Chorea-acanthocytosis is one of a group of conditions called the neuroacanthocytoses that involve neurological problems and abnormal red blood cells. The condition is characterized by involuntary jerking movements (chorea), abnormal star-shaped red blood cells (acanthocytosis), and involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, tongue, and throat. Chorea-acanthocytosis is caused…
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
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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
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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
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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
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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…
Twin to twin transfusion syndrome
Twin to twin transfusion syndrome (TTTS) is a rare condition that occurs during a twin pregnancy when blood moves from one twin (the “donor twin”) to the other (the “recipient twin”) while in the womb.[1] TTTS is a complication that specifically occurs in identical (monozygotic) twin pregnancies that share the same “egg” sac (monochorionic) that may…
Fibrous dysplasia
Fibrous dysplasia is a skeletal disorder that is characterized by the replacement of normal bone with fibrous bone tissue. It may involve one bone (monostotic) or multiple bones (polyostotic).[1][2] Fibrous dysplasia can affect any bone in the body. The most common sites are the bones in the skull and face, the long bones in the…
Arterial tortuosity syndrome
Arterial tortuosity syndrome is a disorder that affects connective tissue (a tissue that provides strength and flexibility to structures throughout the body). It is characterized by blood vessel abnormalities, particularly abnormal twists and turns (tortuosity) of the blood vessels that carry blood from the heart to the rest of the body (the arteries). Other blood vessel…
Primary hyperoxaluria type 3
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Malignant hyperthermia arthrogryposis torticollis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2215 Definition An extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of…
Jeune syndrome
Jeune syndrome is a rare condition that primarily affects the bones. Common signs and symptoms include a small chest and short ribs which restrict the growth and expansion of the lungs, often causing life-threatening breathing difficulties. Other symptoms may include shortened bones in the arms and legs, unusually shaped pelvic bones, and extra fingers and/or…
Platelet storage pool deficiency
Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their…
Ghosal hematodiaphyseal dysplasia syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1802 Definition Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia. Epidemiology The exact prevalence is unknown. GHDD has been reported in unrelated families…
Pulmonary atresia with intact ventricular septum
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1208 Definition Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum…
Autosomal dominant pseudohypoaldosteronism type 1
Autosomal dominant pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine, failure to thrive and dehydration. Patients typically present in the newborn period, improve with age, and usually become asymptomatic without treatment. Some adult patients with the disorder may have elevated aldosterone levels, but no history of clinical disease. Autosomal dominant pseudohypoaldosteronism type 1 (PHA1A) exhibits…
Glycogen storage disease type 7
Glycogen storage disease type 7 (GSD7) is an inherited condition in which the body is unable to break down glycogen (a complex sugar) in the muscle cells. Because glycogen is an important source of energy, this can interfere with the normal functioning of muscle cells. The severity of the condition and the associated signs and…
Rare lichen planus
Rare lichen planus (rare LP) refers to several rare variants of lichen planus, which is a condition that affects the skin and/or mouth. The signs and symptoms vary by subtype but generally include an itchy rash. In most cases, the exact underlying cause of rare LP is unknown; however, studies suggest that it may be…
Frank Ter Haar syndrome
Frank-Ter Haar syndrome is a rare inherited condition characterized by multiple skeletal abnormalities, developmental delay, and characteristic facial features (unusually large cornea, flattened back of the head, wide fontanels, prominent forehead, widely spaced eyes, prominent eyes, full cheeks, and small chin). Less than 30 cases have been reported worldwide. Protruding ears, prominent coccyx bone (or tail bone),…
Protein C deficiency
Protein C deficiency is a disorder that increases a person’s risk to develop abnormal blood clots due to a deficiency of the Protein C, a protein in the body that prevents blood clotting.[1][2] It may be inherited or acquired. Inherited deficiency of protein C can lead to familial thrombophilia (increased tendency toward thrombosis). It is caused by…
Proteus syndrome
Proteus syndrome is characterized by excessive growth of a part or portion of the body. The overgrowth is usually asymmetric, which means it affects the right and left sides of the body differently. Newborns with Proteus syndrome have few or no signs of the disorder. Overgrowth becomes apparent between the ages of 6 and 18 months and becomes…
Saccharopinuria
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3124 Definition Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria. Epidemiology The prevalence is unknown. Clinical description The few patients with saccharopinuria have been investigated largely because of neurological problems including…
Sarcoidosis
Sarcoidosis is an inflammatory disease characterized by the development and growth of tiny lumps of cells called granulomas. If these tiny granulomas grow and clump together in an organ, they can affect the organ’s structure and function. Overtime, this can lead to permanent scarring or thickening of the organ tissue (also called fibrosis). Although the…
Superior semicircular canal dehiscence syndrome
Superior semicircular canal dehiscence syndrome is a rare balance disorder characterized by auditory and/or vestibular symptoms. These might include dizziness and vertigo triggered by heavy lifting, straining, coughing or loud sounds that change the middle ear or intracranial pressure, fullness in the ear, autophony (an echo or reverberation in the ear when speaking, chewing or…
Primary basilar impression
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2285 Definition Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated…
Severe congenital nemaline myopathy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 171430 Definition Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates. Epidemiology The annual incidence of NM has been…
Metaphyseal acroscyphodysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1240 Definition Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature…
Lipoid proteinosis of Urbach and Wiethe
Lipoid proteinosis (LP) of Urbach and Wiethe is a rare condition that affects the skin and the brain. The signs and symptoms of this condition and the disease severity vary from person to person. The first sign of LP is usually a hoarse cry during infancy. Affected children then develop characteristic growths on the skin…
Spastic paraplegia 24
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101004 Definition A very rare, pure form of spastic paraplegia characterized by an onset in infancy of lower limb spasticity associated with gait disturbances, scissor gait, tiptoe walking, clonus and increased deep tendon reflexes. Mild…
Beukes familial hip dysplasia
Beukes hip dysplasia (BHD) is a rare inherited skeletal dysplasia affecting the hip joint. In general, skeletal dysplasias are a group of disorders which affect the bone and cartilage. Skeletal dysplasias are more commonly known as types of dwarfism, but not all skeletal dysplasias cause a person to be short in height. In fact, BHD only…
Plasminogen activator inhibitor type 1 deficiency
Plasminogen activator inhibitor type 1 (PAI1) deficiency is a rare bleeding disorder that causes excessive or prolonged bleeding due to blood clots being broken down too early.[1][2][3] PAI1 is a protein in the body needed for normal blood clotting.[1] When the body does not have enough functional PAI1, the body’s ability keep blood clots intact…
Kernicterus
Kernicterus refers to brain damage that may occur when neonatal jaundice goes untreated for too long. Physiologic neonatal jaundice (which can affect about 60% of all newborn babies) is a very common condition in which the skin and whites of the eyes are yellowish in color within a few days after birth, due to high levels…
Valinemia
Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine. Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. Low muscle tone (hypotonia), excessive drowsiness, hyperactivity, and developmental delay have also been…
Binswanger’s disease
Binswanger’s disease is a type of dementia caused by widespread, microscopic areas of damage to the deep layers of white matter in the brain.[1] Most affected people experience progressive memory loss and deterioration of intellectual abilities (dementia); urinary urgency or incontinence; and an abnormally slow, unsteady gait (style of walking).[2] While there is no cure,…
Thomas syndrome
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Bone dysplasia lethal Holmgren type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1842 Definition Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three…
Bork Stender Schmidt syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1264 Definition Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome (see this term), congenital hypotrichosis and dental abnormalities such as oligodontia (see this term) or hyperdontia, and associated with…
Iridogoniodysgenesis type 1
Iridogoniodysgenesis type 1 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…
Fibular aplasia ectrodactyly
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1118 Definition A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additonal variable features include shortening of the femur, as well as tibial, hip, knee,…
Bruck syndrome 1
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2771 Definition Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures. Epidemiology Prevalence is unknown but less than 40 cases have been reported in the literature so far. Clinical description…
X-linked intellectual disability, Abidi type
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X-linked intellectual disability, Schimke type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85285 Definition X-linked mental retardation, Schimke type, is characterised by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys,…
Brown syndrome
Brown syndrome is an eye disorder characterized by abnormalities in the eye’s ability to move. Specifically, the ability to look up and in is affected by a problem in the superior oblique muscle/tendon. The condition may be present at birth (congenital) or it may develop following surgery or as a result of inflammation or a problem with…
Rare Hematology News