Rare Hematology News
Advertisement
Epidermolysis bullosa simplex, Dowling-Meara type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 79396DefinitionEpidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.EpidemiologyWorldwide prevalence is unknown…
Pheochromocytoma
Pheochromocytomas are tumors of the adrenal glands. These glands are located right above the kidneys. Pheochromocytomas cause the adrenal glands to make too many stress hormones called epinephrines and norepinephrines. This can lead to high blood pressure and cause symptoms such as severe headaches, irritability, sweating, rapid heart rate, nausea, vomiting, weight loss, weakness, chest pain, and…
Adult-onset nemaline myopathy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 171442 Definition A rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset. Epidemiology The annual incidence of NM has been estimated at 1/50,000 live births. Adult-onset NM represents <5% of total…
Early Infantile Epileptic Encephalopathy 12
Early Infantile Epileptic Encephalopathy type 12 (EIEE12) is an extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his…
Vein of Galen aneurysm
Vein of Galen aneurysm is a rare form of arteriovenous malformation in which the embryonic precursor to the vein of Galen, a vein at the base of the brain, dilates causing too much blood to rush to the heart. This can lead to rapid heart failure. Other features may include increased head circumference resulting from hydrocephalus, unusually prominent veins…
2q37 deletion syndrome
2q37 deletion syndrome is a chromosome disease that can affect many parts of the body. About 100 cases have been reported worldwide. This condition is characterized by short stature, weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, autistic behavior, obesity, characteristic facial features, and other physical abnormalities, such as…
Hyperostosis corticalis generalisata
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3416 Definition Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the…
Kanzaki disease
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79280 Definition A very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy. Epidemiology Prevalence of this disorder is not known but less than 20 cases…
Transient erythroblastopenia of childhood
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98871 Definition A rare, benign, red cell aplasia of young children or infants characterized by a normocytic normochromic anaemia with severe reticulocytopenia in otherwise normocellular bone marrow, and a complete spontaneous recovery within 1-2 months…
Primary cutaneous amyloidosis
Primary cutaneous amyloidosis is a form of amyloidosis, a group of conditions in which an abnormal protein (called amyloid) builds up in various organs and tissues throughout the body. In primary cutaneous amyloidosis, specifically, this protein accumulates in the skin. There are three main forms of primary cutaneous amyloidosis:[1][2] Lichen amyloidosis multiple itchy, raised spots…
Anaplastic oligoastrocytoma
Anaplastic oligoastrocytoma is a brain tumor that forms when two types of cells in the brain, called oligodendrocytes and astrocytes, rapidly increase in number to form a mass. These brain cells are known as glial cells, which normally protect and support nerve cells in the brain. Because an oligoastrocytoma is made up of a combination of two…
Tyrosinemia type 1
Tyrosinemia type 1 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a shortage of the enzyme fumarylacetoacetate hydrolase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzyme shortage is caused by mutations in the FAH gene….
Sideroblastic anemia
Sideroblastic anemia is a group of blood disorders characterized by an impaired ability of the bone marrow to produce normal red blood cells. In this condition, the iron inside red blood cells is inadequately used to make hemoglobin, despite normal amounts of iron. As a result, iron accumulates in the red blood cells, giving a ringed…
Hirschsprung disease type d brachydactyly
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2150 Definition Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described…
Ankylosing vertebral hyperostosis with tylosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2206 Definition A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients…
Rhizomelic syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3098 Definition Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial…
Atelosteogenesis type 3
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 56305 Definition A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings. Epidemiology The prevalence of AOIII is unknown. Less than 25 affected patients have been reported. Clinical description AOII, like…
Femoral facial syndrome
Femoral facial syndrome (FFS) is a rare condition characterized by underdevelopment of the thigh bone (femoral hypoplasia) and characteristic facial features.[1] Facial features may include upward-slanting eyes, short nose with a broad tip, long space between the nose and upper lip (philtrum), thin upper lip, small lower jaw (micrognathia), and cleft palate.[1] Other features of FFS may include defects…
Glutamate formiminotransferase deficiency
Glutamate formiminotransferase deficiency is an inherited metabolic disorder that affects physical and mental development. There are two forms of this condition, a mild form and a severe form. People with the mild form have minor delays in physical and mental development and may have mild intellectual disability. They also have unusually high levels of a…
Fingerprint body myopathy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 97232 Definition Fingerprint body myopathy is a congenital benign muscle disorder characterised by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is…
Distal arthrogryposis type 5
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1154 Definition Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia…
Sheldon-Hall syndrome
Sheldon-Hall syndrome, also known as distal arthrogryposis type 2B, is characterized by joint deformities (contractures) that restrict movement in the hands and feet. People with this condition may also have distinctive facial features, extra folds of skin on the neck, and short stature. Intelligence and life expectancy are not usually affected. Sheldon-Hall syndrome can be…
Pyknoachondrogenesis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3003 Definition A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis. Epidemiology The disease is very rare and only five cases (four males and one female) have been reported in the literature so far. Clinical…
Glutathionuria
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 33573 Definition A disorder that is characterized by increased glutathione concentration in the plasma and urine. Epidemiology Gamma-glutamyl transpeptidase deficiency has been detected in seven patients in five families worldwide. Clinical description Five of the…
Frey’s syndrome
Frey’s syndrome is a rare, neurological disorder that causes a person to sweat excessively while eating. It most often occurs as a complication of surgery involving the parotid gland (a major salivary gland located below the ear). It may also occur following neck dissection, facelift procedures, or trauma to the area near the parotid gland.[1][2]…
Pemphigoid gestationis
Pemphigoid gestationis (PG) is a pregnancy-associated, autoimmune skin disorder. It usually begins abruptly during the 2nd or 3rd trimester of pregnancy, but it can begin at any time during pregnancy. Signs and symptoms often include the sudden formation of very itchy, red bumps and/or blisters on the abdomen and trunk, which may then spread to other…
Thoracolaryngopelvic dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3317 Definition Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. Epidemiology Prevalence is unknown but less than 10 cases have been reported in the literature so far….
GMS syndrome
empty
Parkinson disease type 9
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 306674 Definition Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment. Visit the Orphanet disease page for more resources.
Granulomatous slack skin disease
Granulomatous slack skin disease (GSS) is a very rare cutaneous disorder and less than 50 cases have been reported so far. The cause of this condition is unknown but it is often associated with mycosis fungiodes and other lymphoproliferative disorders such as Hodgkin and non-Hodgkin lymphoma. Signs and symptoms include loose hanging skin and fine wrinkling of…
Axial spondylometaphyseal dysplasia
Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term “axial” means towards the center of the body. “Sphondylos” is a Greek term meaning vertebra. “Metaphyseal dysplasia” refers to abnormalities at the ends of long bones. Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine, upper arms and upper legs, and results…
Spastic paraplegia facial cutaneous lesions
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2819 Definition A complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution…
Neuropathy, hereditary motor and sensory, Okinawa type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 90117 Definition Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle…
Muscular dystrophy, congenital, infantile with cataract and hypogonadism
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1875 Definition Congenital muscular dystrophy-infantile cataracthypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission…
Insulin autoimmune syndrome
Insulin autoimmune syndrome is a rare condition that causes low blood sugar (hypoglycemia). This occurs because the body begins to make a specific kind of protein called antibodies to attack insulin. Insulin is a naturally occurring hormone that is responsible for keeping blood sugar at a normal level. When blood sugar levels get too high,…
Short rib-polydactyly syndrome type 4
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93268 Definition Short ribpolydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features…
HSD10 disease
HSD10 disease (also known as 2-methyl-3-hydroxybutyric aciduria) is an inherited disorder in which the body cannot effectively process the amino acid isoleucine. Signs and symptoms of this condition usually develop in infancy or early childhood and include metabolic acidosis, hypoglycemia, hypotonia, seizures, movement problems, retinal degeneration, and hearing loss. Affected males have severe neurodegeneration with loss…
HIBCH deficiency
HIBCH deficiency is a rare metabolic disease. Early symptoms include poor muscle tone, poor feeding, seizures, and a gradual loss of skills. HIBCH deficiency can cause signs and symptoms similar to another disease, called Leigh syndrome.[1] Diagnosis is aided by blood tests which show high levels of lactic acid, and imaging studies which show changes…
Hyperprolinemia
Hyperprolinemia is when there is an excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms: hyperprolinemia type 1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although…
Bile acid synthesis defect, congenital, 4
empty
Familial atypical multiple mole melanoma syndrome
Familial atypical multiple mole melanoma syndrome (FAMMM syndrome) is an inherited condition characterized by the presence of multiple moles.[1][2] Atypical moles, also called dysplastic nevi, are benign but are associated with an increased risk of melanoma.[3] They can occur sporadically (with no other cases in a family), but are a symptom of FAMMM when multiple…
Marie Unna congenital hypotrichosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 444 Definition A rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around…
Branchiootic syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 52429 Definition Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or…
Juvenile osteoporosis
Juvenile osteoporosis is a condition of bone demineralization characterized by pain in the back and extremities, multiple fractures, difficulty walking, and evidence of osteoporosis.[1][2] Symptoms typically develop just before puberty. Osteoporosis is rare in children and adolescents. When it does occur, it is usually caused by an underlying medical disorder or by medications used to treat…
Bowen-Conradi syndrome
Bowen-Conradi syndrome is a very rare genetic disorder characterized by growth delays before birth, failure to thrive during infancy, and malformations of the head and facial area. Other physical abnormalities include small head, prominent nose, small chin, mild joint restriction, clinodactyly, camptodactyly, foot deformities, and/or undescended testes (cryptorchidism) in affected males. Some affected infants may also have…
Spondyloepiphyseal dysplasia Maroteaux type
Spondyloepiphyseal dysplasia (SED) Maroteaux type is a rare skeletal dysplasia that is characterized by short stature beginning in infancy, short, stubby hands and feet, and genu valgum (knock knees). In addition to these physical characteristics, individuals with SED Maroteaux type have some common radiographic findings, including platyspondyly (flattened vertebral bodies in the spine), abnormalities of…
Intellectual deficit short stature hypertelorism
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3074 Definition Intellectual disabilityshort stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability characterized by short stature, mild to moderate intellectual disability, craniofacial dysmorphism (prominent broad ‘square’ forehead, hypertelorism, depressed nasal bridge, broad nasal tip…
Pars planitis
Pars planitis is a disease of the eye that is characterized by inflammation of the narrowed area (pars plana) between the colored part of the eye (iris) and the choroid. This may lead to blurred vision; dark, floating spots in the vision; and progressive vision loss. As the condition advances, cataracts, retinal detachment, or macular…
Juvenile polyposis syndrome
Juvenile polyposis syndrome (JPS) is a disorder characterized by having a susceptibility to developing hamartomatous polyps in the gastrointestinal (GI) tract. A hamartomatous polyp is a benign (noncancerous) tumor-like malformation made up of an abnormal mixture of cells and tissues. In JPS, these polyps can occur in the stomach, small intestine, colon, and rectum. The term “juvenile” refers…
Persistent genital arousal disorder
Persistent genital arousal disorder (PGAD) in men may be considered as the condition of priapism and unwanted ejaculatory fluids being released without any sexual interest. In women there is still no consensus about a formal definition, but some of the experts propose that in women it should be defined as a rare, unwanted, and intrusive…
Kapur Toriello syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2328 Definition Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation. Epidemiology Only four cases have been reported in the literature, in three…
Sitosterolemia
Sitosterolemia is a rare inherited condition in which plant sterols accumulate in the blood and tissues. Plant sterols, including sitosterol, stigmasterol, and campesterol, are fatty substances found in vegetable oils and nuts. Individuals with sitosterolemia have extremely high levels of sitosterol (30 to 100 times higher than normal), along with mildly to moderately elevated levels…
Camptodactyly syndrome Guadalajara type 1
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1327 Definition Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. Epidemiology To date only eight cases have been reported in the literature. Clinical description…
North Carolina macular dystrophy
North Carolina macular dystrophy (NCMD) is an inherited eye disorder that affects the development of the macula, the small, but important part of the eye located in the center of the retina. The macula allows a person to see fine details and do tasks that require central vision, such as reading and driving. It is also…
Spastic paraplegia with precocious puberty
empty
Platyspondylic lethal skeletal dysplasia Torrance type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85166 Definition Platyspondylic lethal skeletal dysplasia (PLSD), Torrance type (PLSD-T) is a skeletal dysplasia characterised by severe limb shortening (short and broad long bones), platyspondyly with wafer-like vertebral bodies, short ribs with anterior cupping, severe…
Lichen planus pigmentosus
Lichen planus pigmentosus (LPP) is a rare form of lichen planus. It is characterized by oval or irregularly-shaped brown to gray-brown macules and patches on the skin. Areas that are exposed to sun such as the forehead, temples and neck are most commonly affected. However, the macules and patches may also develop on the trunk or in…
Renal agenesis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 411709 Definition Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively; see these terms), accompanied by…
Nocardiosis
Nocardiosis is a rare infectious disorder, that affects the brain, skin, and/or lungs. It occurs mainly in people with a weakened immune system but can affect anyone, and about one-third of infected people do not have any immune problems.[1][2][3]. This condition usually starts in the lungs and can spread to other body organs. Affected individuals usually…
Cerebellar hypoplasia tapetoretinal degeneration
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2246 Definition Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate…
Mycobacterium fortuitum
Mycobacterium fortuitum is a bacteria that can cause infections of many areas of the body including the skin, lymph nodes, and joints. It belongs to a group of bacteria, known as nontuberculous mycobacterium, as it is different from the Mycobacterium that causes tuberculosis. It can be found in natural and processed water, sewage, and dirt.[1][2]…
Spinocerebellar ataxia 12
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98762 Definition Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated…
Curly hair-acral keratoderma-caries syndrome
empty
Maroteaux Stanescu Cousin syndrome
empty
Rare Hematology News