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Classic galactosemia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 79239DefinitionA life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.EpidemiologyGlobal prevalence is unknown but estimated annual incidence has been reported to be between 1/40,000 and 1/60,000…
Prurigo nodularis
Prurigo nodularis (PN) is a skin disease that causes hard, itchy lumps (nodules) to form on the skin.[1] The itching (pruritus) can be intense, causing people to scratch themselves to the point of bleeding or pain. Scratching can cause more skin lesions to appear.[2][3] The itching is worsened by heat, sweating, or irritation from clothing.[4]…
Spastic paraplegia 25
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101005 Definition Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs…
Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis 3 (CLN3-NCL) is a rare condition that affects the nervous system. Signs and symptoms generally develop between age 4 and 8 years, although later onset cases have been reported. Affected people may experience rapidly progressive vision loss, developmental regression (loss of acquired milestones), cognitive decline, heart problems, seizures, speech disturbances, behavioral problems…
Odonto onycho dysplasia with alopecia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2722 Definition Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic…
Collagenous colitis
Collagenous colitis is a type of inflammatory bowel disease that affects the colon. It is a form of microscopic colitis, which causes chronic diarrhea. It typically occurs in middle-aged adults, is more common in females than in males, and has rarely been reported in children. In all forms of microscopic colitis, the colon appears normal…
Osteoarthropathy of fingers familial
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3314 Definition Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25…
Thoracic dysplasia hydrocephalus syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1861 Definition Thoracic dysplasiahydrocephalus syndrome is an extremely rare primary bone dysplasia syndrome characterized by short ribs with a narrow chest and thoracic dysplasia, mild rhizomelic shortening of the limbs, communicating hydrocephalus, and developmental delay….
Combined oxidative phosphorylation deficiency
Combined oxidative phosphorylation deficiency is a disease that affects many parts of the body. Onset occurs at or soon after birth in most cases, and features can include growth retardation, small head (microcephaly), increased muscle tone, floppiness of the trunk and head, brain disease (encephalopathy), enlarged heart muscle (cardiomyopathy), and liver dysfunction. There are many…
Papular epidermal nevi with skyline basal cell layers syndrome
Papular epidermal nevus with “skyline” basal cell layer syndrome (PENS) is a very rare type of keratinocytic epidermal nevi that includes a specific type of skin lesion and can be associated with other birth defects and neurological problems.[1][2][3][4][5] The skin lesions appear as small, slightly scaly, pimples (papules) made of the thickened outer layer of the…
Schwannomatosis
Schwannomatosis is a rare form of neurofibromatosis that is primarily characterized by multiple schwannomas (benign tumors of the nervous system) in the absence of bilateral (affecting both sides) vestibular schwannomas. Signs and symptoms of the condition vary based on the size, location and number of schwannomas but may include pain; numbness; tingling; and/or weakness in…
Pelizaeus-Merzbacher-like disease
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 280270 Definition Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; see this term). Epidemiology Prevalence is unknown. Clinical description It is characterized by…
Vitiligo
Vitiligo is a relatively common pigmentation disorder in which the skin’s pigment-making cells (melanocytes) are lost or destroyed. As a result, well-defined white patches appear on the skin. Patches may occur on one section or all over the body and may join together (coalesce).[1] Some people also have loss of pigment in patches of hair…
Intrinsic factor deficiency
Intrinsic factor deficiency is a rare condition that is characterized by pernicious anemia and neurological abnormalities. Most affected people develop signs and symptoms of the condition before age 5 years which may include failure to thrive and symptoms related to anemia (i.e. fatigue, pale skin, etc). Without early diagnosis and treatment, nervous system damage may…
Xeroderma pigmentosum
Xeroderma pigmentosum (XP) causes the skin and eyes to be extra sensitive to exposure to ultraviolet radiation from the sun and other sources. Symptoms begin in early childhood. People with XP can develop bad sunburns, blistering, and freckling in response to sunlight. The eyes may develop light sensitivity, corneal clouding, and swelling. Some people with XP…
Fibular hemimelia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93323 Definition Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone. Epidemiology Prevalence is estimated at 1 in 50,000. A slight male preponderance has been reported…
Sohval Soffer syndrome
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Continuous spike-wave during slow sleep syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 725 Definition Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at…
Cranioectodermal dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1515 Definition Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa). Epidemiology To date, 20 cases…
Hailey-Hailey disease
Hailey-Hailey disease is a genetic skin disease that causes blistering. Signs and symptoms include a painful rash and blistering in skin folds, such as the armpits, groin, neck, under the breasts, and between the buttocks. Secondary bacterial infections are not uncommon. Symptoms are often worse in summer months due to heat, sweating, and friction.[1] Hailey-Hailey…
Hawkinsinuria
Hawkinsinuria is an inherited disorder, characterized by the inability to break down the amino acid tyrosine. This results in the finding of certain amino acids in the urine, such as hawkinsin. The features of this condition usually appear around the time infants are weaned off breast milk and begin to use formula. The signs and…
Deafness craniofacial syndrome
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Human HOXA1 Syndromes
Human HOXA1 syndromes are very rare disorders present at birth mainly affecting the development of the ears, eyes, and cardiovascular system. The main symptoms include inability to move the eyes to the sides (horizontal gaze paralysis), deafness, and birth defects involving blood flow in and out of the heart. Human HOXA1 syndromes have been described…
Oculocerebrocutaneous syndrome
Oculocerebrocutaneous (OCC) syndrome is a rare genetic disorder characterized primarily by eye, skin, and brain malformations. It has been described mostly in males.[1][2][3] Findings in affected individuals may include orbital cysts, areas of underdeveloped (hypoplastic) or absent (aplastic) skin, and underdevelopment (hypoplasia) or absence (agenesis) of the band of nerve fibers that joins the brain’s hemispheres (corpus…
Andermann syndrome
Andermann syndrome (AS) is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). Agenesis or malformation of the corpus callosum also occurs in most people with this disorder. Signs and symptoms of the disorder include areflexia; hypotonia; amyotrophy; severe progressive weakness and loss of sensation in the limbs;…
Dermal eccrine cylindroma
Cylindromas are non-cancerous (benign) tumors that develop from the skin.[1] They most commonly occur on the head and neck and rarely become cancerous (malignant). An individual can develop one or many cylindromas; if a person develops only one, the cylindroma likely occurred by chance and typically is not inherited.[1] They usually begin to form during mid-adulthood as a…
Achromatopsia 2
Achromatopsia 2 is a condition that affects the color vision. Most people have complete achromatopsia which is characterized by a total absence of color vision (only able to see black, white and shades of gray). Rarely, affected people may have incomplete achromatopsia which is associated with some color discrimination. Other common signs and symptoms include…
Woodhouse Sakati syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3464 Definition Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. Epidemiology Approximately 30 patients from consanguineous Middle Eastern families, together with…
Acquired pure red cell aplasia
Acquired pure red cell aplasia (PRCA) is a bone marrow disorder characterized by a reduction of red blood cells (erythrocytes) produced by the bone marrow. Signs and symptoms may include fatigue, lethargy, and/or abnormal paleness of the skin (pallor) due to the anemia the caused by the disorder.[1] In most cases, the cause of acquired PRCA is unknown…
Diffuse panbronchiolitis
Diffuse panbronchiolitis (DPB) is a rare condition characterized by inflammation of the small airways of the lungs (bronchiolitis) and chronic sinusitis. It mainly occurs among the Japanese but has been reported in other populations. Symptoms typically develop anywhere from the teenage years to the fifth decade of life and are slowly progressive over months to…
Acromelanosis
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Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen (DMC) syndrome is a rare, progressive genetic condition characterized by abnormal skeletal development, microcephaly, and intellectual disability. Only about 100 cases have been reported to date. Skeletal abnormalities may include a barrel-shaped chest with a short trunk, partial dislocation of the hips, knock knees, bowlegs, and decreased joint mobility. A small number of affected individuals experience instability…
DYT-THAP1
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98806 Definition Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases. Epidemiology It has been reported in two Amish-Mennonite families. Clinical description Adolescent…
Dysplastic cortical hyperostosis
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Adult-onset vitelliform macular dystrophy
Adult-onset vitelliform macular dystrophy (AVMD) is an eye disorder that can cause progressive vision loss. AVMD affects an area of the retina called the macula, which is responsible for sharp central vision. The condition causes a fatty yellow pigment to accumulate in cells underlying the macula, eventually damaging the cells.[1] AVMD usually begins after age…
Severe congenital neutropenia autosomal recessive 3
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 99749 Definition Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia,…
Deficiency of N-glycanase 1
Deficiency of N-glycanase 1 (NGLY1 deficiency) is a complex neurological syndrome in which there is a deficiency of an enzyme known as N-glycanase 1 (NGLY1). This enzyme normally helps the body remove proteins that are not functioning properly. The typical features of NGLY1 deficiency include abnormal tear production, a movement disorder (choreoathetosis), and liver disease. Additional features may…
Glycogen storage disease type 13
Glycogen storage disease type 13 (GSD13), also known as β-enolase deficiency, is an inherited disease of the muscles. The muscles of an affected individual are not able to produce enough energy to function properly, causing muscle weakness and pain. GSD13 is caused by changes (mutations) in the ENO3 gene and is inherited in an autosomal recessive…
Idiopathic pulmonary hemosiderosis
Idiopathic pulmonary hemosiderosis is a rare disease characterized by repeated episodes of bleeding into the lungs, which can cause anemia and lung disease. The body is able to remove most of the blood from the lungs, but a large amount of iron is left behind. Over time, this iron can cause permanent damage to the lungs (fibrosis)….
Spinocerebellar ataxia 34
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1955 Definition An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes. Epidemiology…
Amyloidosis familial visceral
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85450 Definition A group of rare renal diseases, characterized by amyloid fibril deposition of apolipoprotein A-I or A-II (AApoAI or AApoAII amyloidosis), lysozyme (ALys amyloidosis) or fibrinogen A-alpha chain (AFib amyloidosis) in one or several…
Congenital analbuminemia
Congenital analbuminemia (CAA) is a rare disorder characterized by the absence or very low levels of human serum albumin (HSA). Although albumin is the most abundant plasma protein and has many functions, patients with CAA present with only a few mild clinical signs, such as fatigue, low blood pressure, and swelling (edema). However, CAA patients…
Genetic steroid-resistant nephrotic syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 656 Definition A rare disorder characterized by a nephrotic syndrome with often early onset. Epidemiology Prevalence in the general population is unknown. Clinical description The nephrotic syndrome is defined by severe proteinuria with low serum…
Ankyloblepharon filiforme imperforate anus
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1074 Definition An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present…
Auditory neuropathy spectrum disorder
Auditory neuropathy spectrum disorder (ANSD) is a rare condition that can affect a person’s ability to hear. Although sounds enter the inner ear normally, signals from the inner ear to the brain are not transmitted properly. As a result, the condition may be associated with mild to severe hearing loss and poor speech-perception abilities (difficulty understanding…
Atelosteogenesis type 2
Atelosteogenesis type 2 is a genetic disorder that affects cartilage and bone development. Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. The signs and symptoms of atelosteogenesis type 2 include an opening in the roof of the mouth (a cleft palate), characteristic facial features, an inwardand upward-turning foot (clubfoot),…
Epidermolysis bullosa
Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister and erode very easily. In people with EB, blisters form in response to minor injuries or friction, such as rubbing or scratching.[2310] There are four main types of EB, which are classified based on the depth, or level, of…
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…
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