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49, XXXXY syndrome
49,XXXXY syndrome is a type of chromosome abnormality characterized by the presence of 3 extra X chromosomes in males. It is sometimes referred to as a variant of Klinefelter syndrome, but differs from Klinefelter syndrome in many ways and is more severe.[1] Signs and symptoms of 49,XXXXY syndrome can vary but may include learning difficulties or intellectual…
Dowling-Degos disease
Dowling-Degos disease is characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation) in the body’s folds and creases. Other features may include abnormal growths and pus-filled swellings in the armpits, back, and neck. Symptoms typically develop in late childhood or in adolescence and progress over time. The classic form of Dowling-Degos…
ADCY5-related dyskinesia
ADCY5-related dyskinesia is a movement disorder that is characterized by several different types of involuntary movements. Affected people generally develop sudden jerks, twitches, tremors, muscle tensing, and/or writhing movements between infancy and late adolescence. These abnormal movements are often continuous during waking hours and may persist during sleep, resulting in disrupted sleep cycles. The arms,…
Dubowitz syndrome
Dubowitz syndrome is a very rare genetic and developmental disorder with a broad range of signs and symptoms. The typical findings of Dubowitz syndrome include growth failure/short stature, characteristic facial features such as a small triangular face, high sloping forehead, drooping eyelid (ptosis), short eyelids, increased distance between eyes (hypertelorism) broad and flat nasal bridge with…
Autosomal dominant leukodystrophy with autonomic disease
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 99027 Definition A rare, slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment. Epidemiology More than 20 families in different ethnic groups have been reported to date. Exact…
Leber hereditary optic neuropathy with dystonia
Leber hereditary optic neuropathy (LHON) with dystonia is a very rare variant of LHON where an individual has LHON associated with dystonia, which involves involuntary muscle contractions, tremors, and other unctrolled movements. It is caused by mutations in one of three mitochondrial genes: MT-ND1, MT-ND3, MT-ND4, and MT-ND6. Other features that have been associated with this condition include…
Arthrochalasia Ehlers-Danlos syndrome
Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility; congenital hip dislocation; fragile, hyperextensible skin; hypotonia; and kyphoscoliosis (kyphosis and scoliosis).[1][2] EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is…
Rhizomelic chondrodysplasia punctata
Rhizomelic chondrodysplasia punctata (RCDP) is a type of peroxisomal disorder which impairs the normal development of many parts of the body. It is characterized by shortening of the bones in the upper arms and thighs (rhizomelia). People with RCDP have very poor growth and often develop joint deformities (contractures) that make the joints stiff and painful. Other major features…
Progressive osseous heteroplasia
Progressive osseous heteroplasia (POH) is a progressive bone disorder in which bone forms (ossifies) within skin and muscle tissue.[1] It usually becomes apparent in infancy with skin (cutaneous) ossification, which progresses to involvement of subcutaneous and deep tissues, including muscle.[1][2] In some cases, it first becomes apparent later in childhood or in early adulthood.[1] Ossification may…
Al Gazali Aziz Salem syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2865 Definition Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born…
Emanuel syndrome
Emanuel syndrome is a chromosomal disorder that is characterized by learning problems and stunted growth and development.[1] The signs and symptoms are varied and may include decreased muscle tone (hypotonia) and developmental delay in childhood, intellectual disability severe, extremely small head (microcephaly), distinctive facial features, small jaw, ear anomalies, arched palate (roof of the mouth), cleft palate, heart defects, kidney malformations, and genital…
ALG1-CDG (CDG-Ik)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79327 Definition A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability…
Kimura disease
Kimura disease is a rare, noncancerous, chronic condition that causes the tissue under the skin of the head or neck to become swollen. Masses generally appear in a person’s mid-20s and the disease mainly affects Asian men. Kimura disease is diagnosed by a surgical biopsy and the cause of the disease is unknown.[1][2][3] Treatment includes surgery,…
Jumping Frenchmen of Maine
Jumping Frenchmen of Maine is a condition characterized by an unusually extreme startle response. The exact cause of the condition is unknown. One theory is that the disorder occurs because of an extreme conditioned response to a particular situation influenced by cultural factors. It was first identified during the late nineteenth century in Maine and the Canadian province of…
Amyotrophy, neurogenic scapuloperoneal, New England type
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Angel shaped phalangoepiphyseal dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 63442 Definition A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits,…
Familial chylomicronemia syndrome
Hyperlipoproteinemia type 1 is an inherited condition that disrupts the normal breakdown of fats in the body, causing a large amount of fat to build up in the blood.[1] This condition is characterized by inflammation of the pancreas (pancreatitis), abdominal pain, enlargement of the liver and spleen (hepatosplenomegaly), and small yellow skin lesions called eruptive xanthomas.[1][2]…
Familial osteochondritis dissecans
Osteochondritis dissecans is a joint condition that occurs when a piece of cartilage and the thin layer of bone beneath it, separates from the end of the bone. If the piece of cartilage and bone remain close to where they detached, they may not cause any symptoms. However, affected people may experience pain, weakness and/or…
Microphthalmia syndromic 6
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 139471 Definition Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also…
Fanconi syndrome
Fanconi syndrome (FS) affects the way the kidneys work. In FS, the kidneys do not properly absorb electrolytes and other substances into the body. Symptoms can begin at any age. They may include slow growth, fragile bones, frequent urination, and dehydration. Other symptoms include weakness, tremors, and fatigue. FS can occur as an isolated condition or as part…
Arachnoiditis
Arachnoiditis is a pain disorder caused by inflammation of the arachnoid, one of the membranes that surrounds and protects the nerves of the spinal cord. The inflammation may occur due to irritation from chemicals; infection; direct injury to the spine; chronic compression of spinal nerves; or complications from spinal surgery or other spinal procedures. It may…
Fibromatosis
Fibromatosis refers to a group of conditions characterized by overgrowths of skin and connective tissue called fibromas. These fibromas are usually benign (non-cancerous). Fibromatosis can be classified by a person’s age or by the location of the fibromas. The cause of fibromatosis is often unknown, and treatment depends on the individual disease.[1]
Arthrogryposis multiplex congenita pulmonary hypoplasia
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Autism spectrum disorder
Autism spectrum disorder (ASD) is a condition that affects the development of social and communication skills. It includes features of four conditions which were once thought to be separate syndromes autistic disorder, Asperger syndrome, childhood disintegrative disorder, and pervasive developmental disorder. Signs and symptoms often become apparent in the first 2-3 years of life and…
Succinic semialdehyde dehydrogenase deficiency
Succinic semialdehyde dehydrogenase (SSADH) deficiency is a disorder that can cause a variety of neurological and neuromuscular problems. The signs and symptoms can be extremely variable among affected individuals and may include mild to severe intellectual disability; developmental delay (especially involving speech); hypotonia; difficulty coordinating movements (ataxia); and/or seizures. Some affected individuals may also have decreased reflexes (hyporeflexia);…
Nijmegen breakage syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 647 Definition Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections. Epidemiology Prevalence…
Gastrocutaneous syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2069 Definition A rare, syndromic, hyperpigmentation of the skin characterized by multiple lentigines and café-au-lait spots associated with hiatal hernia and peptic ulcer, hypertelorism and myopia. There have been no further descriptions in the literature…
Auriculoosteodysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 114 Definition A very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature. Epidemiology The…
Autoimmune retinopathy
Autoimmune retinopathy represents a spectrum of rare autoimmune diseases that primarily affect retinal photoreceptor function and lead to progressive vision loss. Included in this spectrum are cancer-associated retinopathy (CAR), melanoma-associated retinopathy (MAR) and presumed non-paraneoplastic autoimmune retinopathy (npAIR). Autoimmune retinopathy typically presents in the fifth and sixth decades with rapidly progressive, bilateral, painless visual deterioration….
Osteopetrosis autosomal dominant type 1
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,…
Autosomal recessive protein C deficiency
Autosomal recessive protein C deficiency is an inherited blood clotting disorder characterized by serious protein C deficiency. The disease may be very severe and associated with neonatal purpura fulminans (NPF) or intracranial thromboembolism. It may also be a milder disorder where patients present with clotting (venous thromboembolism) in childhood, adolescence, or adulthood.[1] It is caused by having…
Spondylometaphyseal dysplasia with dentinogenesis imperfecta
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 166272 Definition Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta. Epidemiology To date, 11 patients have been reported. Clinical description Chondrodysplasia is characterized by mesomelic limb shortening, joint…
Deafness oligodontia syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3230 Definition Deafness-oligodontia syndrome is characterised by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of…
GTP cyclohydrolase I deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2102 Definition GTP-cyclohydrolase I deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective…
Hereditary sensory and autonomic neuropathy
Hereditary sensory autonomic neuropathy (HSAN) is a group of rare peripheral neuropathies where neurons and/or axons are affected.[1] The major feature of these conditions is the loss of large myelinated and unmyelinated fibers.[2] Myelin is an insulating layer, or sheath that forms around nerves, made up of protein and fatty substances, that allows electrical impulses to…
Blepharo-cheilo-odontic syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1997 Definition Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth. Epidemiology Prevalence is unknown. Over 50 cases have been described in literature to date….
Benign essential blepharospasm
Benign essential blepharospasm (BEB) is a progressive neurological disorder characterized by abnormal blinking or spasms of the eyelids. It is a form of dystonia, a group of movement disorders involving uncontrolled tensing of the muscles (contractions), rhythmic shaking (tremors), and other involuntary movements.[1][2] BEB occurs in both men and women, although it is especially common in…
Juvenile macular degeneration and hypotrichosis
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Monomelic amyotrophy
Monomelic amyotrophy (MMA) is a rare disease that causes muscle weakness in the upper extremities. MMA affects the lower motor neurons. Lower motor neurons are cells that help communicate information from the brain to the muscles that are involved in movement (skeletal muscles). Specifically, monomelic amyotrophy causes weakness and loss of muscle mass in the…
Humeroradial synostosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3265 Definition Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by unior bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal…
Mannosidosis, beta A, lysosomal
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 118 Definition Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity. Visit the Orphanet disease page for more…
Encephalocele
Encephaloceles are rare neural tube defects characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal development. The result is a groove down the midline of the upper part of the skull,…
Congenital mirror movement disorder
Congenital mirror movement disorder (CMM) is a rare disorder characterized by persistent, involuntary movements on one side of the body that mirror intentional movements on the opposite side of the body.[1][2][3] Mirroring movements are common in early stages of life during development, but they typically disappear during childhood when neurologic development of motor pathways is…
Hypopituitarism
Hypopituitarism occurs when the body has low levels of certain hormones made by the pituitary gland. The pituitary gland normally makes several hormones (including growth hormone, thyroid stimulating hormone, adrenocorticotropic hormone, prolactin, follicle stimulating hormone and luteinizing hormone, vasopressin, and oxytocin). These hormones are important for directing body growth and development, and for regulating blood pressure and…
KID syndrome
Keratitis-ichthyosis-deafness (KID) syndrome is a rare disorder that causes skin abnormalities, eye problems, and hearing loss.[1] Skin abnormalities include thick, hard skin on the underside of the hands and feet (palmoplantar keratoderma); thick, red patches of skin (erythrokeratoderma); and dry, scaly skin (ichthyosis). Eye problems are caused by keratitis (inflammation of the cornea) which can lead…
Insulin-like growth factor I deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 73272 Definition Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit. Epidemiology The syndrome is extremely rare and…
Brachydactyly type A7
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93397 Definition Brachydactyly type A7 (Smorgasbord type) is a form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the…
Intermediate congenital nemaline myopathy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 171433 Definition Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression. Epidemiology The annual incidence…
Buschke-Lowenstein tumor
Buschke-Lowenstein tumor (BLT) is a solid tumor that usually develops around the external genitals or anus. BLT grows slowly into a bulky, cauliflower-shaped mass. It often spreads into surrounding tissues and causes damage. BLT is a sexually transmitted condition caused by specific types of the human papilloma virus (HPV). Risk factors for developing BLT include…
Senior Loken Syndrome
Senior Loken syndrome (SLS) is a rare syndrome that mainly affects the kidneys and eyes. SLS causes a cystic kidney disease called nephronophthisis, which usually begins in early childhood. The kidneys develop cysts, inflammation, and scarring, which progressively impair kidney function. Symptoms of nephronophthisis may include increased production of urine, excessive thirst, weakness, and severe fatigue. Nephronophthisis…
Keratosis follicularis spinulosa decalvans
Keratosis follicularis spinulosa decalvans (KFSD) is a rare, inherited, skin condition. KFSD is a form of ichthyoses, a group of inherited conditions of the skin in which the skin tends to be thick and rough, and to have a scaly appearance. The face, neck, and forearms are frequently involved. The thickening of the skin is accompanied…
Cap myopathy
Cap myopathy is a disorder that primarily affects skeletal muscles, the muscles that the body uses for movement. People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face, neck, and limbs. The muscle weakness, which begins at…
MOGS-CDG (CDG-IIb)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79330 Definition MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures,…
Lateral meningocele syndrome
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Sengers syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1369 Definition Congenital cataract hypertrophic cardiomyopathy mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. Epidemiology Prevalence of CCM is unknown; approximately…
Lethal congenital contracture syndrome 11
Lethal congenital contracture syndrome 11 (LCCS11) is a severe disorder characterized by congenital (present at birth) contractures. A contracture is a condition in which a joint becomes permanently fixed in a bent or straightened position, partially or completely restricting the movement of the affected joint. The condition has only being described in few people. Symptoms…
Plasma cell leukemia
Plasma cell leukemia (PCL) is a rare and aggressive form of multiple myeloma that involves high levels of plasma cells circulating in the peripheral blood. The signs and symptoms of PCL include aggressive clinical features, such as extramedullary disease, bone marrow failure, advanced stage disease and expression of distinct immunophenotypic markers.[1] Different types of treatments are available for…
Flynn Aird syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2047 Definition A rare neuroectodermal disorder involving the nervous, cutaneous, skeletal, and glandular systems. Clinical manifestations include eye abnormalities (cataracts, retinitis pigmentosa, and myopia), sensorineural deafness, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy and striking…
Cerebro-costo-mandibular syndrome
Cerebro-costo-mandibular syndrome (CCMS) is a very rare condition characterized by severe micrognathia (abnormally small jaw), abnormalities of the roof of the mouth (palate), and rib defects. Other signs and symptoms may include intellectual disability and microcephaly (small head size). In some cases, the features cause respiratory problems in early infancy and can be life-threatening.[1][2] Most…
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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