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Spastic paraplegia 51
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Arachnoid cysts
Arachnoid cysts are sacs filled with cerebrospinal fluid (CSF) that are located between the brain or spinal cord and the arachnoid membrane, one of the three membranes that cover the brain and spinal cord. Arachnoid cysts can be primary or secondary. Primary arachnoid cysts are congenital (present at birth), resulting from abnormal development of the…
Fibromatosis
Fibromatosis refers to a group of conditions characterized by overgrowths of skin and connective tissue called fibromas. These fibromas are usually benign (non-cancerous). Fibromatosis can be classified by a person’s age or by the location of the fibromas. The cause of fibromatosis is often unknown, and treatment depends on the individual disease.[1]
Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1484 Definition Contractures ectodermal dysplasia cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia…
Succinic semialdehyde dehydrogenase deficiency
Succinic semialdehyde dehydrogenase (SSADH) deficiency is a disorder that can cause a variety of neurological and neuromuscular problems. The signs and symptoms can be extremely variable among affected individuals and may include mild to severe intellectual disability; developmental delay (especially involving speech); hypotonia; difficulty coordinating movements (ataxia); and/or seizures. Some affected individuals may also have decreased reflexes (hyporeflexia);…
Pili torti onychodysplasia
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Atrial myxoma, familial
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 615 Definition Familial atrial myxoma is a rare, genetic cardiac tumor characterized by the presence of a primary, benign, gelatinous mass located in the atria and composed of primitive connective tissue cells and stroma (resembling…
Gastrocutaneous syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2069 Definition A rare, syndromic, hyperpigmentation of the skin characterized by multiple lentigines and café-au-lait spots associated with hiatal hernia and peptic ulcer, hypertelorism and myopia. There have been no further descriptions in the literature…
Pitt-Hopkins-like syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 221150 Definition Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism…
Auriculoosteodysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 114 Definition A very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature. Epidemiology The…
Polysyndactyly cardiac malformation
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2934 Definition Polysyndactyly-cardiac malformation syndrome is characterized by polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart)….
Autoimmune retinopathy
Autoimmune retinopathy represents a spectrum of rare autoimmune diseases that primarily affect retinal photoreceptor function and lead to progressive vision loss. Included in this spectrum are cancer-associated retinopathy (CAR), melanoma-associated retinopathy (MAR) and presumed non-paraneoplastic autoimmune retinopathy (npAIR). Autoimmune retinopathy typically presents in the fifth and sixth decades with rapidly progressive, bilateral, painless visual deterioration….
Osteopetrosis autosomal dominant type 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,…
Propriospinal myoclonus
Propriospinal myoclonus (PSM) is a rare movement disorder first described in 1991. It is characterized by painless, repetitive jerking of the trunk, neck, hips, and knees. The jerking may be spontaneous but may also occur in response to a stimulus. The jerking often gets worse when the person is lying down. In some cases, a…
Autosomal recessive protein C deficiency
Autosomal recessive protein C deficiency is an inherited blood clotting disorder characterized by serious protein C deficiency. The disease may be very severe and associated with neonatal purpura fulminans (NPF) or intracranial thromboembolism. It may also be a milder disorder where patients present with clotting (venous thromboembolism) in childhood, adolescence, or adulthood.[1] It is caused by having…
Spondylometaphyseal dysplasia with dentinogenesis imperfecta
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 166272 Definition Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta. Epidemiology To date, 11 patients have been reported. Clinical description Chondrodysplasia is characterized by mesomelic limb shortening, joint…
Pulmonary vein stenosis
Pulmonary vein stenosis is a very rare and serious condition in which there is a blockage in the blood vessels that bring oxygen-rich blood from the lungs back to the heart. This condition can be isolated to one vein, but often affects multiple veins. Stenosis occurs when there is an abnormal thickening and narrowing of…
Deafness oligodontia syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3230 Definition Deafness-oligodontia syndrome is characterised by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of…
GTP cyclohydrolase I deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2102 Definition GTP-cyclohydrolase I deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective…
Rocky mountain spotted fever
Rocky Mountain spotted fever refers to an infection caused by the bacterium Rickettsia rickettsia. This particular bacterium is carried by certain species of ticks and spread to humans through the bites of infected ticks. Signs and symptoms of the condition generally develop approximately 2 to 14 days following the tick bite and may include fever,…
Hereditary sensory and autonomic neuropathy
Hereditary sensory autonomic neuropathy (HSAN) is a group of rare peripheral neuropathies where neurons and/or axons are affected.[1] The major feature of these conditions is the loss of large myelinated and unmyelinated fibers.[2] Myelin is an insulating layer, or sheath that forms around nerves, made up of protein and fatty substances, that allows electrical impulses to…
Blepharo-cheilo-odontic syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1997 Definition Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth. Epidemiology Prevalence is unknown. Over 50 cases have been described in literature to date….
Spinocerebellar ataxia 30
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Benign essential blepharospasm
Benign essential blepharospasm (BEB) is a progressive neurological disorder characterized by abnormal blinking or spasms of the eyelids. It is a form of dystonia, a group of movement disorders involving uncontrolled tensing of the muscles (contractions), rhythmic shaking (tremors), and other involuntary movements.[1][2] BEB occurs in both men and women, although it is especially common in…
Juvenile macular degeneration and hypotrichosis
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Semantic dementia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100069 Definition Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or…
Monomelic amyotrophy
Monomelic amyotrophy (MMA) is a rare disease that causes muscle weakness in the upper extremities. MMA affects the lower motor neurons. Lower motor neurons are cells that help communicate information from the brain to the muscles that are involved in movement (skeletal muscles). Specifically, monomelic amyotrophy causes weakness and loss of muscle mass in the…
Humeroradial synostosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3265 Definition Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by unior bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal…
Split hand/foot malformation X-linked
Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits.[1][2] The severity of this condition varies widely among affected individuals. SHFM is sometimes called ectrodactyly; however, this is a nonspecific term used to describe missing…
Mannosidosis, beta A, lysosomal
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 118 Definition Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity. Visit the Orphanet disease page for more…
Spondylometaepiphyseal dysplasia short limb-hand type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93358 Definition Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed…
Encephalocele
Encephaloceles are rare neural tube defects characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal development. The result is a groove down the midline of the upper part of the skull,…
Congenital mirror movement disorder
Congenital mirror movement disorder (CMM) is a rare disorder characterized by persistent, involuntary movements on one side of the body that mirror intentional movements on the opposite side of the body.[1][2][3] Mirroring movements are common in early stages of life during development, but they typically disappear during childhood when neurologic development of motor pathways is…
Hypopituitarism
Hypopituitarism occurs when the body has low levels of certain hormones made by the pituitary gland. The pituitary gland normally makes several hormones (including growth hormone, thyroid stimulating hormone, adrenocorticotropic hormone, prolactin, follicle stimulating hormone and luteinizing hormone, vasopressin, and oxytocin). These hormones are important for directing body growth and development, and for regulating blood pressure and…
Ventricular extrasystoles with syncopal episodes perodactyly Robin sequence
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3201 Definition This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence (see…
KID syndrome
Keratitis-ichthyosis-deafness (KID) syndrome is a rare disorder that causes skin abnormalities, eye problems, and hearing loss.[1] Skin abnormalities include thick, hard skin on the underside of the hands and feet (palmoplantar keratoderma); thick, red patches of skin (erythrokeratoderma); and dry, scaly skin (ichthyosis). Eye problems are caused by keratitis (inflammation of the cornea) which can lead…
Tetra-amelia syndrome
Tetra-amelia syndrome is a very rare disorder characterized by the absence of all four limbs. This syndrome can also cause severe malformations of other parts of the body, including the face and head, heart, nervous system, skeleton, and genitalia. The lungs are underdeveloped in many cases, which makes breathing difficult or impossible. Because children with…
Insulin-like growth factor I deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 73272 Definition Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit. Epidemiology The syndrome is extremely rare and…
Brachydactyly type A7
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93397 Definition Brachydactyly type A7 (Smorgasbord type) is a form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the…
Intermediate congenital nemaline myopathy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 171433 Definition Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression. Epidemiology The annual incidence…
White forelock with malformations
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2475 Definition White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye…
Buschke-Lowenstein tumor
Buschke-Lowenstein tumor (BLT) is a solid tumor that usually develops around the external genitals or anus. BLT grows slowly into a bulky, cauliflower-shaped mass. It often spreads into surrounding tissues and causes damage. BLT is a sexually transmitted condition caused by specific types of the human papilloma virus (HPV). Risk factors for developing BLT include…
Senior Loken Syndrome
Senior Loken syndrome (SLS) is a rare syndrome that mainly affects the kidneys and eyes. SLS causes a cystic kidney disease called nephronophthisis, which usually begins in early childhood. The kidneys develop cysts, inflammation, and scarring, which progressively impair kidney function. Symptoms of nephronophthisis may include increased production of urine, excessive thirst, weakness, and severe fatigue. Nephronophthisis…
Keratosis follicularis spinulosa decalvans
Keratosis follicularis spinulosa decalvans (KFSD) is a rare, inherited, skin condition. KFSD is a form of ichthyoses, a group of inherited conditions of the skin in which the skin tends to be thick and rough, and to have a scaly appearance. The face, neck, and forearms are frequently involved. The thickening of the skin is accompanied…
Cap myopathy
Cap myopathy is a disorder that primarily affects skeletal muscles, the muscles that the body uses for movement. People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face, neck, and limbs. The muscle weakness, which begins at…
MOGS-CDG (CDG-IIb)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79330 Definition MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures,…
Lichen planus pemphigoides
Lichen planus pemphigoides (LPP) is a rare cross-over syndrome between lichen planus and bullous pemphigoid. Like other forms of lichen planus, it is characterized by a skin rash (shiny, flat-topped, firm bumps that are a purple color and vary from pin point size to larger than a centimeter); however, people affected by LPP subsequently develop…
Cauda equina syndrome
Cauda equina syndrome (CES) refers to a group of symptoms that occur when nerves in the cauda equina (a collection of nerve roots that spread out from the bottom of the spinal cord) become compressed or damaged. These nerves roots connect the central nervous system and peripheral nervous system. CES can lead to pain, numbness, and…
Lipedematous Scalp
Lipedematous scalp is a rare disorder characterized by thickening of the adipose subcutaneous layer (fat tissue under the scalp). When associated with lack of hair, it is known as lipedematous alopecia. The scalp is soft, spongy or thick in the forehead area (apex) and in the back (occiput) of the head. It mainly affects women….
Corneal dystrophy Thiel Behnke type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98960 Definition Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment. Epidemiology Prevalence of this form of corneal…
Lymphedema, microcephaly and chorioretinopathy syndrome
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Cerebellar ataxia and hypogonadotropic hypogonadism
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1173 Definition Cerebellar ataxiahypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty…
Short rib-polydactyly syndrome, Majewski type
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Methionine adenosyltransferase deficiency
Methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in an isolated increase of the amino acid methionine in the blood (hypermethioninemia). In most cases there are no symptoms and it is usually a benign condition, but some patients may present with neurologic or developmental problems and/or bad breath. It is caused by mutations…
Melorheostosis with osteopoikilosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1879 Definition Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that…
Moloney syndrome
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Monogenic diabetes
The most common forms of diabetes, type 1 and type 2, are polygenic, meaning the risk of developing these forms of diabetes is related to multiple genes [1][2]. Environmental factors, such as obesity in the case of type 2 diabetes, also play a part in the development of polygenic forms of diabetes. Polygenic forms of…
Chromosome 22q duplication
Chromosome 22q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 22. 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…
Mulibrey Nanism
Mulibrey nanism is a rare genetic disorder characterized by profound growth delays and distinctive abnormalities of the muscles, liver, brain, and eyes. The acronym MULIBREY stands for (MU)scle, (LI)ver, (BR)ain, and (EY)e; nanism is another word for dwarfism. Signs and symptoms of the disorder may include constrictive pericarditis; low birth weight; short stature; severe progressive growth delays; hypotonia;…
8q12 microduplication syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 228399 Definition The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multiorgan clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly (see this term)….
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