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Symphalangism with multiple anomalies of hands and feet
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3246DefinitionSymphalangism with multiple anomalies of hands and feet is a rare, genetic, congenital limb malformation disorder characterized by bilateral symphalangism of hands and feet associated with cutaneous syndactyly of digits II-V, unilateral or bilateral brachydactyly type…
Leydig cell hypoplasia
Leydig cell hypoplasia (LCH) is a disorder that impairs male sexual development. It causes incomplete development of Leydig cells, which are cells in the testicles (testes) that secrete male sex hormones (androgens). These hormones are needed for normal male sexual development as reproductive organs are forming (before birth), as well as during puberty. A genetic male with…
Martsolf syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1387 Definition This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Epidemiology Less than 20 cases have been described in the literature so far. Clinical description Besides the three…
Corticosteroid-binding globulin deficiency
Corticosteroid-binding globulin deficiency is a genetic disorder characterized by extreme tiredness (fatigue), particularly after physical exertion, and low blood pressure (hypotension).[1][2] Corticosteroid-binding globulin (CBG) is a protein primarily produced in the liver that attaches to cortisol, a hormone with numerous functions, including maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation. When cortisol…
Corneodermatoosseous syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3194 Definition A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkertosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis,…
Lymphomatoid granulomatosis
Lymphomatoid granulomatosis is a rare disorder characterized by an overproduction of white blood cells known as B lymphocytes. These B cells can build up in the tissues of the body, causing damage to the blood vessels.[1] In many cases of lymphomatoid granulomatosis, the abnormal B cells contain the Epstein-Barr virus. The disease is more common…
Cerebellar degeneration
Cerebellar degeneration refers to the deterioration of neurons (nerve cells) in the cerebellum (the area of the brain that controls muscle coordination and balance). Conditions that cause cerebellar degeneration may also affect other areas of the central nervous system, such as the spinal cord, the cerebral cortex (the thin layer of cells covering the brain), and…
Char syndrome
Char syndrome is a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities. Char syndrome is caused by mutations in the TFAP2B gene and is inherited in an autosomal…
Chilaiditi syndrome
Chilaiditi syndrome is a medical condition in which a portion of the colon is abnormally positioned between the liver and the diaphragm. Symptoms vary, but may include abdominal pain, nausea, vomiting, and small bowel obstruction. In many cases, there are no symptoms and the interposition is an incidental finding. When no symptoms are present, the…
Thiamine responsive megaloblastic anemia syndrome
Thiamine-responsive megaloblastic anemia syndrome is a very rare condition characterized by hearing loss, diabetes, and a blood disorder called megaloblastic anemia. Affected individuals begin to show symptoms of this condition between infancy and adolescence. This syndrome is called “thiamine-responsive” because the anemia can be treated with high doses of vitamin B1 (thiamine). This condition is caused by…
Cholesteatoma
Cholesteatoma is an abnormal growth of skin in the middle ear behind the eardrum. It can be congenital (present from birth), but it more commonly occurs as a complication of chronic ear infections.[1][2] Individuals with this condition usually experience a painless discharge from the ear.[3] Hearing loss, dizziness, and facial muscle paralysis are rare but can result…
Retinochoroidal coloboma
Retinochoroidal coloboma is an eye abnormality that occurs before birth. It is characterized by missing pieces of tissue in both the retina (the light-sensitive tissue lining the back of the eye) and choroid (the blood vessel layer under the retina). In many cases, retinochoroidal coloboma does not cause symptoms. However, complications such as retinal detachment…
Koolen de Vries syndrome
Koolen de Vries syndrome is a disorder characterized by developmental delay, mild to moderate intellectual disability, congenital malformations, and behavioral features.[1][2] Developmental delay is noted from an early age. Other problems include weak muscle tone (hypotonia) in childhood, recurrent seizures (epilepsy), and distinctive facial features. Males with Koolen de Vries syndrome often have undescended testes (cryptorchidism). Other symptoms may…
Mitochondrial DNA depletion syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 35698 Definition The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the…
Chromosome 1q deletion
Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur…
Mucopolysaccharidosis
Mucopolysaccharidosis refers to a group of inherited conditions in which the body is unable to properly breakdown mucopolysaccharides (long chains of sugar molecules that are found throughout the body). As a result, these sugars buildup in cells, blood and connective tissue which can lead to a variety of health problems. Seven distinct forms and numerous…
Chromosome 4q duplication
Chromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4. The severity and specific symptoms depend on the size and location of the duplication, and which genes are involved. Features that have been described in some people with chromosome 4q duplication include developmental…
Muscular phosphorylase kinase deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 715 Definition Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance. Epidemiology The disease is very rare with less than 30 patients…
Chromosome 9q deletion
Chromosome 9q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 9. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur…
Chronic myeloproliferative disorders
Chronic myeloproliferative disorders are a group of slow-growing blood cancers in which the bone marrow makes too many abnormal red blood cells, white blood cells, or platelets, which accumulate in the blood. The type of myeloproliferative disorder is based on whether too many red blood cells, white blood cells, or platelets are being made. Sometimes the body…
Nephrosis deafness urinary tract digital malformation
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Clear cell renal cell carcinoma
Clear cell renal cell carcinoma is a cancer of the kidney. The name “clear cell” refers to the appearance of the cancer cells when viewed with a microscope.[5258] Clear cell renal cell carcinoma occurs when cells in the kidney quickly increase in number, creating a lump (mass). Though the exact cause of clear cell renal…
Zechi Ceide syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 217017 Definition Zechi-Ceide syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears,…
Oguchi disease
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 75382 Definition Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon. Epidemiology Oguchi disease is a very rare condition with approximately 50 cases…
Subaortic stenosis short stature syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3191 Definition A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the association of short stature and progressive discrete subaortic stenosis. Additional variable manifestations include upturned nose, voice and vocal cord abnormalities, obstructive lung disease,…
Coloboma of optic nerve
Coloboma of the optic nerve is a congenital eye abnormality in which the optic nerve (which carries images of what the eye sees to the brain) is incompletely formed. The condition may occur in one or both eyes. The degree of visual impairment varies widely depending on the severity and structures involved. Serous detachments of…
Painful legs and moving toes syndrome
Painful legs and moving toes (PLMT) syndrome is an adult-onset, rare disorder characterized by pain in the feet or legs and twisting movements of one or more toes. The patients usually seek medical attention because of the pain. The syndrome may be unilateral or bilateral. Identical toe movements may occur without pain, referred to as:…
Patterson-Stevenson-Fontaine syndrome
Patterson-Stevenson-Fontaine syndrome is a very rare syndrome characterized by abnormal development of the bones and tissues of the face (mandibulofacial dysostosis) and limb abnormalities. Physical features of this condition may include a recessed jaw (retrognathism), cleft palate, and anomalies of the external ears. Limb abnormalities may include the absence of toes, clefts in the feet,…
Phaeohyphomycosis
Phaeohyphomycosis refers to fungal infections caused by dematiaceous (darkly pigmented) fungi. It can be associated with a variety of clinical syndromes including invasive sinusitis; nodules or abscesses beneath the skin; keratitis; lung masses; osteomyelitis; mycotic arthritis; endocarditis; brain abscess; and wide-spread infection.[1][2] Although the condition can affect anyone, it is most commonly diagnosed in people…
Congenital femoral deficiency
Congenital femoral deficiency (CFD) refers to a spectrum of congenital (present at birth) malformations of the thigh bone (femur) due to incomplete or abnormal development. CFD may affect one leg (most commonly) or both legs. Severity can range from minor shortening of the femur (appearing normal), to complete absence of much or all of the femur. Deficiency…
Primary pigmented nodular adrenocortical disease
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 189439 Definition Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (see this term) and is characterized by small to…
Cryptogenic organizing pneumonia
Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli).[1] Signs and symptoms may include flu-like symptoms such as cough, fever, malaise, fatigue and weight loss. COP often affects adults in midlife (40 to 60 years of…
Pituitary hormone deficiency, combined 3
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 231720 Definition Non-acquired combined pituitary hormone deficiencysensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent…
Rosai-Dorfman disease
Rosai-Dorfman disease was first described by Rosai and Dorfman in 1969.[1] It is a benign disease which is characterized by over-production and accumulation of a specific type of white blood cell (histiocyte) in the lymph nodes of the body, most often those of the neck (cervical).[2] Other lymph node groups may also be involved and, in some cases, abnormal accumulation…
Pediatric Crohn’s disease
Crohn’s disease is a type of inflammatory bowel disease (IBD), the general name for conditions that cause inflammation in the gastrointestinal (GI) tract. Common signs and symptoms include abdominal pain and cramping, diarrhea, and weight loss. Other general symptoms include feeling tired, nausea and loss of appetite, fever, and anemia. Complications of Crohn’s disease may include intestinal blockage, fistulas, anal…
Hansen’s disease
Hansen’s disease (also known as leprosy) is a rare bacterial infection that affects the skin, nerves and mucous membranes. After exposure, it may take anywhere from 2 to 10 years to develop features of the condition. Once present, common signs and symptoms include skin lesions; muscle weakness or paralysis; eye problems that may lead to blindness; nosebleeds;…
Cutaneous photosensitivity and colitis, lethal
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2881 Definition Cutaneous photosensitivity and lethal colitisis is a rare inflammatory bowel disease (see this term) characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead…
Hereditary cerebral hemorrhage with amyloidosis
Hereditary cerebral hemorrhage with amyloidosis (HCHWA) is a neurological condition in which an abnormal protein (amyloid) builds up in the walls of the arteries of the brain (and less frequently, veins). This process is known as amyloid deposition, which can lead to strokes, seizures, neurological deficits, cognitive decline, and dementia. Symptoms usually present before the 5th…
Spinocerebellar ataxia 19 and 22
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98772 Definition Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low…
Sclerosing mucoepidermoid carcinoma with eosinophilia
Sclerosing mucoepidermoid carcinoma with eosinophilia (SMECE) is a type of cancer that most commonly affects the thyroid gland, but has been reported in the salivary gland as well.[1][2] Signs and symptoms include a painless neck mass.[2] Many people with mucoepidermoid carcinomas are women with Hashimoto’s thyroiditis.[1][3] The prevalence of SMECE is unknown, but only around…
Erythrokeratodermia variabilis et progressiva
Erythrokeratodermia variabilis et progressiva is a skin condition characterized by well-defined round or oval red scaly patches that may join together to form map-like patterns. Some patches are fixed, occurring most often on the outer surfaces of the arms and legs, while others are migratory lasting for hours to days and then fading or moving to…
Aagenaes syndrome
Aagenaes syndrome, or lymphedema cholestasis syndrome (LSC1), is a form of idiopathic familial intrahepatic cholestasis associated with lymphedema of the lower extremities.[1][2] At least some cases of Aagenaes syndrome have been attributed to mutations in the LSC1 gene on chromosome 15q.[3] This condition is inherited in an autosomal recessive manner and is found mainly in individuals of Norwegian descent.[2]
Smith-Fineman-Myers syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93974 Definition An X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies). Epidemiology Prevalence is unknown. Since its initial…
Aberrant subclavian artery
Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is often discovered as an incidental finding (such as through a barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria).[1][2] Swallowing symptoms in children may present as feeding difficulty and/or recurrent respiratory tract infection.[2] When aberrant subclavian…
Deficiency of interleukin-1 receptor antagonist
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 210115 Definition Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe, recurrent, multifocal, aseptic osteomyelitis with marked periostitis,…
Rapadilino syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3021 Definition A rare syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and…
Syndactyly type 2
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93403 Definition Syndactyly type 2 or synpolydactyly (SPD) is a rare congenital distal limb malformation characterized by the combination of syndactyly and polydactyly. Epidemiology The prevalence is unknown. Clinical description In most cases, SPD affects…
Dendritic cell tumor
A dendritic cell tumor develops from the cells of the immune system. This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize). There are five subtypes of dendritic cell tumors: follicular dendritic cell tumor, interdigitating dendritic cell tumor, Langerhans’ cell histiocytosis, Langerhans’ cell sarcoma, and dendritic cell sarcoma not…
Achondrogenesis
Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with achondrogenesis usually have a small body, extremely short arms and legs, other skeletal abnormalities, and underdeveloped lungs.[1][2] There are at least three forms of achondrogenesis, type 1A, type 1B and type 2. Achondrogenesis…
Thrombocytopathy asplenia miosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3204 Definition Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait. Visit…
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome causes a moderately increased risk for certain cancers and tumors. The lungs, kidneys, ovaries, and thyroid are the most commonly involved sites. Pleuropulmonary blastoma is the most commonly associated tumor and often occurs in infants and young children. Cysts in the kidneys (cystic nephroma) are also associated with DICER1…
Weyers acrofacial dysostosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 952 Definition A rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely…
Digestive System Melanoma
Digestive system melanoma refers to a melanoma starting in the stomach, intestines, salivary glands, mouth, esophagus, liver, pancreas, gallbladder, or rectum. Melanoma is a disease in which malignant (cancer) cells form in the melanocytes. Melanocytes are commonly found in the skin and are the cells that give the skin color. While it is not uncommon for melanomas to start…
Acute hemorrhagic leukoencephalitis
Acute hemorrhagic leukoencephalitis (AHLE) is a very rare form of acute disseminated encephalomyelitis that frequently results in death. It is characterized by a brief but intense attack of inflammation in the brain and spinal cord that damages the myelin (the protective covering of the nerve fibers). It may also cause bleeding in the brain, leading to damage of the white…
Undifferentiated connective tissue disease
Undifferentiated connective tissue disease (UCTD) is an autoimmune disease that can affect several systems in the body. Connective tissue disease (CTD) is classified as undifferentiated CTD when signs and symptoms are consistent with a CTD, but do not fulfill the diagnostic or classification criteria for one of the previously defined CTDs (for example, rheumatoid arthritis or lupus).[1]…
Sepiapterin reductase deficiency
Sepiapterin reductase deficiency is a neurometabolic disorder characterized by a pattern of involuntary sustained muscle contractions known as dystonia. Other common features include axial hypotonia , oculogyric crises, and delays in motor and cognitive development. The condition is caused by mutations in the SPR gene. It is inherited in an autosomal recessive fashion.[1][2] Treatment with levodopa (L-dopa) in combination with…
Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 314404 Definition A rare polymorphic disorder, subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia. Epidemiology ADCA-DN has been reported in 24…
Waardenburg syndrome type 1
Waardenburg syndrome type 1 is a genetic condition characterized by eyes that appear widely spaced, congenital hearing loss, and patchy pigment disturbances of the iris, hair and skin.[1][2] Mutations in the PAX3 gene cause the symptoms observed in this condition.[1] Treatment is symptomatic and supportive.[2] Waardenburg syndrome type 1 is inherited in an autosomal dominant manner.[1][2]
Adenomyosis
Adenomyosis is a condition that affects the uterus. In women with adenomyosis, the endometrial tissue (which typically lines the uterus) moves into the outer, muscular walls of the uterus. Some women may have no signs or symptoms of the condition. When present, features of the condition include heavy menstrual bleeding, painful menstrual periods, and pelvic…
X-linked intellectual disability, Turner type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85328 Definition X-linked intellectual disability, Turner type is characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one…
Meckel syndrome
Meckel syndrome is a very severe disorder that is characterized by multiple cysts on the kidneys, protrusion of a portion of the brain through an opening in the skull (occipital encephalocele), and extra fingers or toes (polydactyly). Affected children may also have abnormalities affecting the head and face, liver, lungs, genitals, and urinary tract. Because of these serious health problems, most infants…
GM1 gangliosidosis type 3
GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). Although…
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