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Congenital microcoria
Congenital microcoria is a rare eye disorder affecting the development of the irises. It is characterized by absence or incomplete development of the iris dilator muscles (also called the pupil dilator muscles), making the pupils unable to dilate (widen).[1] People with congenital microcoria have small pupils (with a diameter less than 2 millimeters) that dilate…
Pseudoprogeria syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2985 Definition Pseudoprogeria is characterised by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers. Visit…
Fibrillary glomerulonephritis
Fibrillary glomerulonephritis is an uncommon cause of glomerular disease. A more rare disorder known as immunotactoid glomerulpathy is a very similar condition. Both disorders probably result from deposits derived from immunoglobulins but in most cases the cause is idiopathic (unknown). The diagnosis is made with a kidney biopsy and by electron microscopy. Fibrillary glomerulonephritis and immunotactoid glomerulopathy can be differentiated…
Subcorneal pustular dermatosis
Subcorneal pustular dermatosis (SPD) is a rare skin disease in which pus-filled pimples or blisters (pustules) form under the top (subcorneal) layer of the skin.[1][2][3][4][5] It is most common in middle-aged adults (particularly women) but can develop in children.[2][5] Pustules usually appear over a few hours and grow together to form round or wavy patterns.[2][3]…
Renal dysplasia-limb defects syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3404 Definition Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants…
Hunter-McAlpine syndrome
Hunter-McAlpine syndrome is a very rare condition characterized by developmental delay, intellectual disability, and small head size (microcephaly). Sometimes the microcephaly results from early closure of the bones in the skull, which is called craniosynostosis. This can cause a misshapen skull and is common in individuals with Hunter-McAlpine syndrome; in fact another name for the…
Hall-Riggs syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2107 Definition Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit. Epidemiology Eight cases have been reported in the literature in two unrelated families. Clinical…
Say Meyer syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3369 Definition Trigonocephalyshort staturedevelopmental delay syndrome is characterised by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other…
Spondyloepimetaphyseal dysplasia, Handigodu type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 99642 Definition Spondyloepimetaphyseal dysplasia, Handigodu type is a rare, genetic, primary bone dysplasia disorder characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no…
Severe combined immunodeficiency
Severe combined immunodeficiencies (SCID) are inherited immune system disorders characterized by abnormalities with responses of both T cells and B cells (specific types of white blood cells needed for immune system function). Common signs and symptoms include an increased susceptibility to infections including ear infections; pneumonia or bronchitis; oral thrush; and diarrhea. Due to recurrent…
Kyphoscoliotic Ehlers-Danlos syndrome
Kyphoscoliotic Ehlers-Danlos syndrome is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common signs and symptoms include hyperextensible skin that is fragile and bruises easily; joint hypermobility; severe hypotonia at birth; progressive kyphoscoliosis (kyphosis and scoliosis); and fragility of the sclera.[1][2] kyphoscoliosis EDS is caused by changes (mutations) in…
Spondyloepiphyseal dysplasia tarda X-linked
X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck; disproportionately long arms, and premature osteoarthritis, especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches.[1][2] Other skeletal…
Fetal cystic hygroma
Fetal cystic hygroma is a congenital malformation of the lymphatic system. The lymphatic system is a network of vessels that maintains fluids in the blood, as well as transports fats and immune system cells. Cystic hygromas are single or multiple cysts found mostly in the neck region. In the fetus, a cystic hygroma can progress…
Spondyloepimetaphyseal dysplasia Strudwick type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93346 Definition Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot,…
Johnson neuroectodermal syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2316 Definition Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism. Epidemiology So far, less than 30…
Nathalie syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2663 Definition A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well…
Acrocallosal syndrome, Schinzel type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 36 Definition A polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit. Epidemiology The prevalence is not known but fewer than 50 cases of ACS…
Spondyloepiphyseal dysplasia
Spondyloepiphyseal dysplasia (SED) is a group of rare genetic conditions that affect bone growth in the spine, arms, and legs. Other features include problems with vision and hearing, clubfeet, cleft palate, arthritis, and difficulty with breathing as curvature of the spine progresses. There are two main types of SED, spondyloepiphyseal dysplasia congenita (which is present from…
Deafness-lymphedema-leukemia syndrome
Deafness-lymphedema-leukemia syndrome is a very rare genetic disorder characterized by swelling (lymphedema), a weak immune system (immunodeficiency), and blood disorders. Signs and symptoms may include congenital deafness, swelling of the legs and genitalia, a type of cancer known as acute myeloblastic leukemia, reduction of the blood cells (pancitopenia), scarring of the liver (cirrhosis), heart problems…
Asternia
Asternia, also known as a complete congenital sternal cleft, is a condition in which a bone called the sternum does not form properly. The sternum usually connects to the ribs to form the ribcage. Individuals with asternia are missing this bone and may appear to have a rut or trench under the skin in the middle of the…
Synovial sarcoma
Synovial sarcoma is a rare and aggressive soft tissue sarcoma. In the early stages of the condition, it may cause no noticeable signs or symptoms. However, as the tumor grows larger, affected people may notice a lump or swelling. In some cases, the tumor can limit range of motion or cause numbness and/or pain if…
Chondrodysplasia, Grebe type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2098 Definition A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped…
Teratoma with malignant transformation
A teratoma with malignant transformation (TMT) is a tumor that develops from germ cells when they grow and divide abnormally, forming a mass. Approximately 6% of teratomas develop into TMTs by a process called malignant transformation, when some of the cells in the teratoma become cancerous. TMTs can occur anywhere in the body, but most are located in the testes…
Dextrocardia with situs inversus
Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of the organs in the…
Acquired generalized lipodystrophy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79086 Definition A rare lipodystrophic syndrome characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of…
Tranebjaerg Svejgaard syndrome
Tranebjaerg Svejgaard syndrome is a rare condition that is characterized by intellectual disability, seizures and psoriasis. It has been reported in four male cousins. The underlying genetic cause of the condition is currently unknown; however, it is thought to be inherited in an X-linked manner. Treatment is based on the signs and symptoms present in…
Diaphragmatic flutter
Diaphragmatic flutter is a disease in which there are repeated involuntary contractions of the diaphragm, the muscle that separates the heart and lungs from the abdomen. The abnormal flutter of the diaphragm affects the way the lungs can expand and contract during breathing.[1] Symptoms of diaphragmatic flutter may include difficulty breathing, abdominal pain, heart palpitations,…
Nager acrofacial dysostosis
Nager acrofacial dysostosis is a genetic disorder that affects the limbs and face. The signs and symptoms of Nager acrofacial dysostosis vary among affected individuals, even among those in the same family.[1][2] Treatment is tailored to the individual based upon their specific needs.[2] This condition is caused by mutations in the SF3B4 gene.[1] While most cases are…
Blau syndrome
Blau syndrome is a rare condition characterized mainly by skin rash, arthritis and uveitis.[1] It has variable expressivity and usually affects preschool age children younger than four years of age. Characteristic findings include synovial effusions (fluid in the joints due to inflammation) and cysts, anterior uveitis (swelling and irritation of the uvea) and focal posterior synechiae (adhesion of…
48,XXYY syndrome
48,XXYY syndrome is a chromosomal condition, characterized by the presence of an extra X and Y chromosome in males, that causes medical and behavioral problems. 48,XXYY can be considered a variant of Klinefelter syndrome. Individuals with 48,XXYY are usually considerably tall with small testes that do not function normally leading to infertility. In addition, affected individuals have behavioral problems such as…
Double uterus-hemivagina-renal agenesis
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Potocki-Lupski syndrome
Potocki-Lupski syndrome (PTLS) is a genetic disorder characterized by the presence of an extra copy of a tiny portion of chromosome 17 (duplication of 17p11.2). People with this duplication often have some degree of developmental delay (primarily speech delay), low muscle tone, poor feeding, and failure to thrive during infancy. In addition, many individuals display…
Adiposis dolorosa
Adiposis dolorosa is a rare condition characterized by the growth of multiple, painful, lipomas (benign, fatty tumors). The lipomas may occur anywhere on the body and can cause severe pain. Other symptoms may include weakness, fatigue, and memory disturbances. It usually occurs in adults, and women are more commonly affected than men. Adiposis dolorosa is…
Thanatophoric dysplasia
Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes. Most infants with thanatophoric dysplasia are stillborn or…
X-linked adrenal hypoplasia congenita
X-linked adrenal hypoplasia congenita is an inherited disorder that mainly affects males. It involves many hormone-producing (endocrine) tissues in the body, particularly a pair of small glands on top of each kidney called the adrenal glands. These glands produce a variety of hormones that regulate many essential functions in the body. Congenital adrenal hypoplasia is characterized…
Scholte syndrome
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Aromatase excess syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 178345 Definition A rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with preor peripubertal onset of gynecomastia, premature growth…
GNAO1 encephalopathy
GNAO1 encephalopathy is a rare neurologic disorder that causes developmental delay, early infantile seizures, and abnormal movements. Specific symptoms may include seizures that start early in childhood, severe intellectual disability, poor muscle tone (hypotonia), irregular muscle contractions (chorea), and involuntary movements of the face and tongue (dyskinesia).[1][2] The severity of symptoms can vary. Symptoms may be…
Agnosia
Agnosia is characterized by an inability to recognize and identify objects and/or persons. Symptoms may vary, according to the area of the brain that is affected.[1] It can be limited to one sensory modality such as vision or hearing; for example, a person may have difficulty in recognizing an object as a cup or identifying a…
Lelis syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 140936 Definition Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans. Epidemiology So far, only eight cases have been described in the literature. Clinical description Other clinical features…
Al Gazali Sabrinathan Nair syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2773 Definition Osteogenesis imperfecta-retinopathyseizuresintellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents. Visit the Orphanet…
Elastoderma
Elastoderma is a rare condition that affects the skin. People affected by elastoderma generally have increased laxity of skin covering a specific area of the body. Decreased recoil of the skin has also been reported. Although any part of the body can be affected, the skin of the neck and extremities (arms and legs, especially…
Alexander disease
Alexander disease is a type of leukodystrophy characterized by the destruction of the myelin sheath (the fatty covering that acts as an insulator around nerve fiber) and abnormal protein deposits known as Rosenthal fibers. Most cases of Alexander disease begin before age 2 years (the infantile form). Symptoms of the infantile form include an enlarged brain…
Meningoencephalocele
Meningoencephalocele is a type of encephalocele, which is an abnormal sac of fluid, brain tissue, and meninges (membranes that cover the brain and spinal cord) that extends through a defect in the skull. There are two main types of meningoencephalocele, which are named according to the location of the sac. The frontoethmoidal type is located at…
Al-Gazali-Donnai-Mueller syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2153 Definition Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum,…
Temporal epilepsy, familial
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98819 Definition A rare, genetic epilepsy characterized by mostly benign simple or complex partial seizures with autonomic or psychic auras. Seizures occur infrequently, are of short duration and are usually well controlled with medication. Development…
Loeys-Dietz syndrome type 3
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 284984 Definition A rare, genetic, systemic disease characterized by the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and…
Familial nasal acilia
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Microphthalmia syndromic 9
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2470 Definition Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia. Epidemiology Only five cases have been reported so far, two of whom were…
Pigmented purpuric dermatosis
Pigmented purpuric dermatosis is a chronic condition characterized by reddish-brown skin lesions caused by leaky capillaries. Although they can arise on any part of the body, they are most commonly located on the lower legs.[1][2] In some cases, the skin lesions cause severe itching. The skin lesions may spread over time, or clear up on their own.[1] The cause of…
Antiphospholipid syndrome
Antiphospholipid syndrome (APS) is an autoimmune disorder. Signs and symptoms vary, but may include blood clots, miscarriage, rash, chronic headaches, dementia, and seizures.[1] APS occurs when your body’s immune system makes antibodies that attack phospholipids. Phospholipids are a type of fat found in all living cells, including blood cells and the lining of blood vessels….
Familial visceral myopathy with external ophthalmoplegia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1876 Definition Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction. Visit the Orphanet disease…
Spastic paraplegia 51
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Congenital contractural arachnodactyly
Congenital contractural arachnodactyly (CCA) is a genetic disorder that is characterized by tall height; skinny, long limbs; long, skinny fingers and toes (arachnodactyly); multiple joint deformities present at birth (congenital contractures), usually of the elbows, knees, hips, fingers and ankles; “crumpled”-looking ears; and curvature of the spine (kyphoscoliosis). Enlargement (dilation) of the aorta and other features might also…
Saito Kuba Tsuruta syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2256 Definition Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations…
Stoll Alembik Finck syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3200 Definition A rare, genetic developmental defect during embryogenesis syndrome characterized by camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring…
Neurofaciodigitorenal syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2673 Definition Neurofaciodigitorenal syndrome is a rare multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and…
Phacomatosis pigmentovascularis
Phacomatosis pigmentovascularis (PPV) is a disorder characterized by the co-existence of vascular and pigmentary birthmarks.[1] Signs and symptoms may include port wine stain, melanocytic nevi (commonly known as moles), epidermal nevi, dermal melanocytosis (areas of blue-gray discoloration), nevus spilus, and patches of hyperpigmentation (areas of darker skin). Other skin features may include nevus anemicus (areas of lighter skin) and café au lait…
Watermelon stomach
Watermelon stomach is a condition in which the lining of the stomach bleeds, causing it to look like the characteristic stripes of a watermelon when viewed by endoscopy. Although it can develop in men and women of all ages, watermelon stomach is most commonly observed in older women (over age 70 years). Signs and symptoms…
Hereditary sensory and autonomic neuropathy type 2
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 970 Definition A rare hereditary sensory and autonomic neuropathy characterized by profound and universal sensory loss involving large and small fiber nerves. Epidemiology To date, less than 100 cases have been reported. There is no…
Phosphoglycerate mutase deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 97234 Definition Muscle phosphoglycerate mutase deficiency (PGAMD) is a metabolic myopathy characterised by exercise-induced cramp, myoglobinuria, and presence of tubular aggregates in the muscle biopsy. Serum creatine kinase (CK) levels are increased between episodes of…
Hereditary methemoglobinemia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 621 Definition A rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) methemoglobinemia types I and II (RCM/RHM type 1; RCM/RHM type 2). Clinical description In RCM type 1,…
16p11.2 duplication
16p11.2 duplication is a chromosomal change in which a small amount of genetic material within chromosome 16 is abnormally copied (duplicated). This duplication occurs in the short (p) arm of chromosome 16 at a position known as 11.2. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms while others may…
Severe X-linked intellectual disability, Gustavson type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3078 Definition A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted…
Microtia eye coloboma and imperforation of the nasolacrimal duct
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 139450 Definition This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Epidemiology So far, it has been described in only one family. Etiology The phenotype is associated…
Popliteal pterygium syndrome, Bartsocas-Papas type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1234 Definition Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws…
Migraine with brainstem aura
Migraine with brainstem aura (MBA) is a type of migraine headache with aura that is associated with pain at the back of the head on both sides. An aura is a group of symptoms that generally serve as a warning sign that a bad headache is coming. Auras may consist of dizziness and vertigo, slurred speech, ataxia,…
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