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Adult-onset nemaline myopathy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 171442DefinitionA rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset.EpidemiologyThe annual incidence of NM has been estimated at 1/50,000 live births. Adult-onset NM represents <5% of total cases.Clinical descriptionAdult onset NM occurs…
Eagle syndrome
Eagle syndrome is characterized by recurrent pain in the middle part of the throat (oropharynx) and face. “Classic Eagle syndrome” is typically seen in patients after throat trauma or tonsillectomy. Symptoms include dull and persistent throat pain that may radiate to the ear and worsen with rotation of the head. Other symptoms may include difficulty…
Epidermolysis bullosa simplex, Ogna type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79401 Definition Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by sometimes widespread, primarily acral blistering. Epidemiology Prevalence is unknown and EBS-O has been…
Edinburgh malformation syndrome
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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…
Fibrocartilaginous embolism
Fibrocartilaginous embolism (FCE) is a rare type of embolism (sudden blocking of an artery) that occurs in the spinal cord.[1] FCE occurs when materials that are usually found within the vertebral disc of the spine enter into the nearby vascular system (veins and arteries) and block one of the spinal cord vessels. The signs and symptoms…
Goldmann-Favre syndrome
Goldmann-Favre syndrome, also known as the severe form of enhanced S-cone syndrome, is a inherited eye disease that affects the light-sensitive part of the eye (retina). Within the retina are “red,” “blue,” and “green” cones which allow us to see colors properly; and rods which allows us to see in dim light. People with Goldmann-Favre syndrome are born with an…
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…
Epidermal nevus
An epidermal nevus is a noncancerous (benign) patch of skin caused by an overgrowth of skin cells. The nevi (plural form of nevus) are seen at birth or develop in early childhood. They can be flat, tan patches of skin, or raised, velvety patches and may become thicker and darker and develop a wart-like (verrucous) appearance….
Keratoderma palmoplantaris transgrediens
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 495 Definition A rare, isolated, diffuse palmoplantar keratoderma disorder characterized by red-yellow, moderate to severe hyperkeratosis of the palms and soles, extending to the dorsal aspects of the hands, feet and/or wrists and involving the…
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…
Tetralogy of Fallot
Tetralogy of Fallot is a complex congenital heart defect characterized by a large ventricular septal defect (hole between the right and left ventricles), pulmonary stenosis (narrowing of the valve and artery that connect the heart with the lungs), an overriding aorta (the aorta the artery that carries oxygen-rich blood to the body is shifted over the…
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…
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…
Pyogenic arthritis, pyoderma gangrenosum and acne
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 69126 Definition Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin. Epidemiology To date, only 34 patients with PAPA syndrome have been reported worldwide, from five…
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…
Fenton Wilkinson Toselano syndrome
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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…
Filippi syndrome
Filippi syndrome is present at birth and impacts the development of the head, face, and limbs. Signs and symptoms include a small head (microcephaly), webbing of the fingers and toes (syndactyly), intellectual disability, growth delay, and distinctive facial features (high and broad nasal bridge, thin nostrils, small chin or micrognathia, and a high frontal hairline). Other features may…
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…
Fryns Hofkens Fabry syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2497 Definition This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients…
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…
Galloway-Mowat syndrome
Galloway-Mowat syndrome is a rare, neurodegenerative disorder characterized by various developmental and physical abnormalities.[1][2] Signs and symptoms may include small head size (microcephaly); developmental delay; seizures; nephrotic syndrome; hiatal hernia; optic atrophy; movement disorders; and intellectual disability.[2][3] Other physical abnormalities may also be present. Galloway-Mowat syndrome may be caused by changes (mutations) in the WDR73…
Neonatal hemochromatosis
Neonatal hemochromatosis is a disease in which too much iron builds up in the body. This is also called iron overload. Accumulation of iron in the organs is toxic and can cause organ damage. In this form of hemochromatosis, the iron overload begins before birth. This disease tends to progress rapidly and is characterized by…
Microcephaly autosomal dominant
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2514 Definition A rare, genetic, non-syndromic, developmental defect during embryogenesis malformation syndrome characterized by a congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity…
Osteopetrosis autosomal recessive 6
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,…
Groll Hirschowitz syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3217 Definition A rare neurologic disease characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities, including progressive loss of gastric motility and small bowel diverticulosis and ulcerations, resulting in cachexia. Additonal neurological manifestations…
Gurrieri syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1858 Definition Skeletal dysplasiaepilepsyshort stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly,…
STAC3 Disorder
STAC3 Disorder is a genetic condition that affects the muscles and skeleton. The main features are muscle weakness present at birth, club foot, fixed joints (joint contractures), and curvature of the spine. The symptoms of this condition vary. The most severe complications can include feeding and breathing difficulties. Many people with this condition are at risk…
Inclusion body myopathy 3
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79091 Definition Hereditary inclusion body myopathy type 3 is characterised by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive. Epidemiology Nineteen affected…
Bartter syndrome
Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body. In some cases, Bartter syndrome becomes apparent before birth. The disorder can cause polyhydramnios, which is an increased volume of fluid surrounding the fetus (amniotic fluid). Polyhydramnios increases the risk of…
Graves disease
Graves’ disease is an autoimmune disorder that leads to overactivity of the thyroid gland (hyperthyroidism). It is caused by the immune system mistakenly attacking the thyroid gland, causing the gland to produce too much thyroid hormone. Graves disease is the most common cause of hyperthyroidism and occurs most often in women over age 20. However, the disorder may…
Benign rolandic epilepsy (BRE)
Benign rolandic epilepsy (BRE) is the most common form of childhood epilepsy. It is referred to as “benign” because most children outgrow the condition by puberty. This form of epilepsy is characterized by seizures involving a part of the brain called the rolandic area.[1] These seizures typically begin between the ages of 3 and 12 years and occur…
Homocystinuria due to MTHFR deficiency
Homocystinuria due to MTHFR deficiency is a genetic condition that results from poor metabolism of folate (also called vitamin B9), due to a lack of working enzyme called MTHFR. The gene that tells our body how to make the enzyme is also called MTHFR. At least 40 rare MTHFR gene variants have been found in people…
X-linked intellectual disability-plagiocephaly syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2898 Definition A rare, syndromic intellectual disability characterized by severe intellectual deficit, brachycephaly, plagiocephaly, and prominent forehead in male patients. Females may display moderate intellectual deficit without craniofacial dysmorphism. There have been no further descriptions…
Mucopolysaccharidosis type VII
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 584 Definition A rare, genetic lysosomal storage disease characterized by accumulation of glycosaminoglycans in connective tissue which results in progressive multisystem involvement with severity ranging from mild to severe. The most consistent features include musculoskeletal…
Hyperinsulinism due to glutamodehydrogenase deficiency
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Bipolar disorder
Bipolar disorder is a type of mental illness that causes unusual shifts in mood, energy, activity levels, sleep and behavior. Signs and symptoms typically include alternating periods of manic episodes (joyful or excited states) and depressive episodes (very sad, hopeless or empty states). Mood episodes may also include symptoms of both mania and depression (a…
Iridocorneal endothelial syndrome
Iridocorneal endothelial (ICE) syndrome describes a group of eye diseases that are characterized by three main features:[1] Visible changes in the iris (the colored part of the eye that regulates the amount of light entering the eye) Swelling of the cornea, and The development of glaucoma (a disease that can cause severe vision loss when normal fluid inside…
Brain-lung-thyroid syndrome
Brain-lung-thyroid syndrome is a rare movement disorder that begins in infancy with neurological disturbances, hypothyroidism, and respiratory problems.[1][2][3] It is characterized by low muscle tone (hypotonia) which evolves into benign hereditary chorea and ataxia, neonatal respiratory distress syndrome and/or interstitial lung disease, and congenital hypothyroidism.[1][2][3][4] The scope and severity of symptoms varies widely, even within…
Spastic paraplegia 18
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 209951 Definition Autosomal recessive spastic paraplegia type 18 (SPG18) is a rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability…
Immunoglobulin G deficiency
Immunoglobulin G (IgG) deficiency is a condition that involves the immune system and is characterized by a shortage of type G antibodies. There are four different subclasses of IgG: IgG1, IgG2, IgG3, and IgG4. People with IgG deficiency may have a decreased amount of one or more of the IgG subclasses or a shortage of other types…
Sillence syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3168 Definition Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot…
Insulinoma
Insulinoma is a type of pancreatic neuroendocrine tumor (pancreatic NET), which refers to a group of rare tumors that form in the hormone-making cells of the pancreas. Insulinomas, specifically, produce too much insulin, a hormone that reduces the level of sugar in the blood by helping it move into cells. As a result, people with insulinomas…
OPHN1 syndrome
OPHN1 syndrome is a rare disorder characterized by intellectual disability and changes in the part of the brain which controls movement and balance (cerebellum). The syndrome mainly affects males. Signs and symptoms may include intellectual disability, low muscle tone (hypotonia), developmental and cognitive delay, early-onset seizures, abnormal behavior, small or underdeveloped genitals, characteristic facial features…
Complement component 8 deficiency type 2
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Kenny-Caffey syndrome type 1
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93324 Definition A rare, primary bone dysplasia characterized by prenatal and postnatal growth retardation, short stature, cortical thickening and medullary stenosis of the long bones, absent diploic space in the skull bones, hypocalcemia due to…
KCNQ2-Related Disorders
KCNQ2-related disorders are a group of epileptic diseases that start during the first 4 weeks of a child’s life (neonatal period).[1] The groups is made up of various different diseases whose signs and symptoms vary. The conditions range from the less severe form KCNQ2-related benign familial neonatal epilepsy (KCNQ2-BFNE) to the more severe form KCNQ2-related epileptic encephalopathy…
Cantalamessa Baldini Ambrosi syndrome
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Lacrimo-auriculo-dento-digital syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2363 Definition Lacrimoauriculodentodigital (LADD) syndrome is a multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary…
Congenital disorders of glycosylation
Congenital disorders of glycosylation (CDG) are a group of inherited metabolic disorders that affect a process called glycosylation. Glycosylation is the complex process by which all human cells build long sugar chains that are attached to proteins, which are called glycoproteins. There are many steps involved in this process, and each step is triggered by a type of protein called an…
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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