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Acromesomelic dysplasia
Acromesomelic dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet…
Wrinkly skin syndrome
Wrinkly skin syndrome is a genetic condition characterized by sagging or wrinkly skin, reduced skin elasticity, and delayed closure of the fontanel (a baby’s “soft spot” on the top of his/her head). Other associated signs and symptoms vary widely. Case reports suggest that this condition is often inherited in an autosomal recessive fashion. It can be caused by mutations in…
Diploid-triploid mosaicism
Diploid-triploid mosaicism (DSM) is a genetic condition caused by an abnormal number of chromosomes. Symptoms of this condition may include decreased muscle tone (hypotonia), slow growth, characteristic facial features, fusion or webbing between the fingers and/or toes (syndactyly), and unusual skin pigmentation. Intellectual disabilities may be present. DSM occurs when a person has some cells with…
Mesomelia-synostoses syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2496 Definition Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion…
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: 79396 Definition Epidermolysis 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….
Adenosine monophosphate deaminase 1 deficiency
Adenosine monophosphate deaminase 1 (AMPD1) deficiency is an inherited condition that can affect the muscles used for movement (skeletal muscles). Many people with AMPD1 deficiency do not have symptoms. People who do have symptoms typically have muscle pain (myalgia), cramping, and weakness after exercise, and often get tired faster than others. Some affected people appear to…
Hypothalamic obesity
Hypothalamic obesity refers to obesity that is caused by physical or inborn damage to the hypothalamus. The hypothalamus is part of the brain that makes hormones that control specific body functions such as sleep, body temperature, and hunger. It also makes hormones that control other organs in the body, especially the pituitary gland. The symptoms…
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…
Albright’s hereditary osteodystrophy
Albright’s hereditary osteodystrophy (AHO) is a rare disorder with a wide range of signs and symptoms, including short stature, obesity, round face, subcutaneous ossifications (formation of bone under the skin), and short fingers and toes (brachydactyly).[1][2] When the disorder is inherited from the mother, the features of AHO can be associated with resistance to certain hormones, in particular the parathyroid hormone (PTH)….
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…
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…
Pseudoaminopterin syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 221120 Definition Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault),…
Anaplastic oligodendroglioma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 251630 Definition A rare glial tumor characterized by a grade III oligodendroglial tumour with focal or diffuse anaplastic features. It typically occurs in the supratentorial white matter. Histologically, the cells are enlarged and epithelioid with…
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….
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…
Annular atrophic lichen planus
Annular atrophic lichen planus (LP) is a rare form of lichen planus, which is a condition that affects the skin and/or mouth. In annular atrophic LP, specifically, affected people develop skin lesions with features of both annular LP and atrophic LP ring-shaped, slightly raised, purple lesions with central atrophy (tissue breakdown). Although these lesions can be…
Diethylstilbestrol syndrome
Diethylstilbestrol syndrome (DES syndrome) refers to developmental or health problems caused by exposure to DES before birth (in utero), such as reproductive tract differences, infertility, and an increased risk for certain cancers.[1][2] DES is a synthetic form of the female hormone estrogen that was prescribed to pregnant women between about 1940 and 1971 to prevent…
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…
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…
Autoimmune polyglandular syndrome type 2
Autoimmune polyglandular syndrome type 2 is an autoimmune disorder that affects many hormone-producing (endocrine) glands.[1] It is characterized by the presence of Addison’s disease along with autoimmune thyroid disease and/or type 1 diabetes.[1] Affected individuals may also have problems with other endocrine glands and other common features include primary hypogonadism, myasthenia gravis, and celiac disease. Autoimmune polyglandular syndrome…
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…
Spastic ataxia Charlevoix-Saguenay type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98 Definition Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy. Epidemiology It was initially described in the Charlevoix-Saguenay region…
Fetal akinesia deformation sequence
Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities.[1][2] It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but…
Ivemark syndrome
Ivemark syndrome is a rare congenital condition that affects multiple organ systems of the body. Ivemark syndrome is classified as a heterotaxy disorder or a laterality disorder. These terms refer to the failure of the internal organs of the chest and abdomen to be arranged in the proper location within the body. It is characterized…
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…
Atrophic lichen planus
Atrophic lichen planus (LP) is a rare form of lichen planus, which is a condition that affects the skin and/or mouth. In atrophic LP, specifically, affected people develop pale papules or plaques with an atrophic (broken down tissue) center. Although these papules can be found anywhere on the body, they most commonly affect the trunk…
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
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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
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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…
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…
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…
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…
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]…
Curly hair-acral keratoderma-caries syndrome
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Maroteaux Stanescu Cousin syndrome
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Cherubism
Cherubism is a rare disorder characterized by progressive, painless, bilateral swelling of the jaw during childhood. This fibro-osseous (bone structure) condition is self-limiting, with symptoms typically resolving in adulthood.[1][2][3][4][5][6] Diagnosis is based on a combination of clinical signs, family history, radiographic findings (panoramic x-rays, CT scan), biopsy, and genetic testing.[1][2][4][6] Cherubism is inherited in an autosomal…
Microphthalmia syndromic 5
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 178364 Definition Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations. Epidemiology Less than 20…
CHOPS syndrome
CHOPS syndrome is rare condition that affects many different parts of the body. “CHOPS” is an acronym for the primary signs and symptoms associated with the condition, including cognitive impairment, coarse facial features, heart defects, obesity, pulmonary (lung) problems, short stature, and skeletal abnormalities. CHOPS syndrome is caused by changes (mutations) in the AFF4 gene…
TANGO2-Related Metabolic Encephalopathy and Arrhythmias
TANGO2related metabolic encephalopathy and arrhythmias is a disease that can cause episodes of metabolic crises and abnormal heart rhythms (arrhythmia). A metabolic crisis is caused by having low blood sugar (hypoglycemia) and the buildup of toxic products in the blood. A metabolic crisis can occur in any person with a metabolic disorder, and they are…
Ring chromosome 16
Ring chromosome 16 is characterized by postnatal growth deficiency, intellectual disability, microcephaly, broad flat nasal bridge, down-turned mouth, low-set and dysmorphic (abnormally-shaped) ears and speech delay.[1][2][3][4] To date, less than 10 cases have been reported in the medical literature.[4]
Rare Immunology News