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Lattice corneal dystrophy type 3A
Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and…
Megalencephalic leukoencephalopathy with subcortical cysts
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a condition that affects brain development and function. Individuals with this condition have an enlarged brain (megalencephaly) and an abnormality of the white matter in the brain (leukoencephalopathy). White matter consists of nerve fibers covered by a fatty substance called myelin that promotes the rapid transmission of nerve…
Caudal appendage deafness
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1123 Definition Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. Visit the Orphanet disease page for…
Charles Bonnet syndrome
Charles Bonnet syndrome (CBS) is a disease in which visual hallucinations occur as a result of vision loss. CBS is not thought to be related to psychosis or dementia and people with CBS are aware that their hallucinations are not real.[1][2][3] The hallucinations people with CBS experience can be described as simple or complex. Simple hallucinations…
Ependymoma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 251636 Definition Ependymoma is the most frequent intramedullary tumor in adults (but accounts for only 10-12% of pediatric central nervous system tumors), and can be benign or anaplastic. Ependymoma arise from the ependymal cells of…
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease type 1E (CMT1E) is a form of Charcot-Marie-Tooth disease, which is a group of rare conditions that affect the peripheral nerves. Signs and symptoms of CMT1E generally become apparent between age 5 and 25 years, although the age of onset and disease severity can vary significantly from person to person. In general, CMT1E…
Multiple carboxylase deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 148 Definition Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing…
Childhood brain stem glioma
Childhood brain stem glioma is a rare condition in which abnormal cells develop in the tissues of the brain stem (the part of the brain connected to the spinal cord). The condition can be benign (noncancerous) or malignant (cancerous). The severity of the condition and the associated signs and symptoms vary based on the size…
Chromophobe renal cell carcinoma
Chromophobe renal cell carcinoma is a rare subtype of the most common form of kidney cancer called renal cell carcinoma (RCC). This type of cancer forms in the cells lining the small tubules in the kidney. These tubules help filter waste from the blood, making urine. Chromophobe RCC accounts for about 5% of all RCC cases, and it is frequently…
Chromosome 12q duplication
Chromosome 12q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 12. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in…
Nodular regenerative hyperplasia
Nodular regenerative hyperplasia (NRH) is a rare liver disease in which normal liver tissue transforms into multiple, small clusters (nodules) of replicating liver cells (regenerating hepatocytes).[1][2][3] It can develop in people of all ages but is more common in older adults.[2] NRH often does not cause signs or symptoms (so is likely underdiagnosed), but in…
Ring chromosome 18
Ring chromosome 18 is a rare chromosome abnormality in which the ends (arms) of chromosome 18 join together to form a ring shape. When a ring chromosome forms, genetic material can be lost from either arm or both arms, causing various signs and symptoms. While most people with ring chromosome 18 have the ring chromosome in…
Mitochondrial genetic disorders
Mitochondrial genetic disorders refer to a group of conditions that affect the mitochondria (the structures in each cell of the body that are responsible for making energy). People with these conditions can present at any age with almost any affected body system; however, the brain, muscles, heart, liver, nerves, eyes, ears and kidneys are the…
Chromosome 20p deletion
Chromosome 20p deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of chromosome 20. The severity and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Extremely small deletions (microdeletions) involving the distal end of…
Chromosome 4q deletion
Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the…
Muscular dystrophy
Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of…
Chronic graft versus host disease
Chronic graft versus host disease (GVHD) is a complication that can occur after a stem cell or bone marrow transplant in which the newly transplanted donor cells attack the transplant recipient’s body.[1] Symptoms may include skin rash, mouth sores, dry eyes, liver inflammation, development of scar tissue in the skin and joints, and damage to…
Peters anomaly
Peters anomaly is a disorder of the eye which involves thinning and clouding of the cornea and attachment of the iris to the cornea, which causes blurred vision. It may also be associated with clouding of the lens of the eye (cataracts) or other lens abnormalities.[1] The cause of Peters anomaly is unknown; it may…
Familiar chronic mucocutaneous candidiasis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1334 Definition Chronic mucocutaneous candidosis (CMC) refers to a group of heterogenous disorders characterized by persistent, debilitating and/or recurrent infections of the skin, nails, and mucus membranes, mainly with the fungal pathogen Candida albicans. Visit…
Pilodental dysplasia with refractive errors
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2892 Definition Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the…
Congenital lipoid adrenal hyperplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 90790 Definition A disorder that is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males. Epidemiology The prevalence is unknown but it is…
Nevus comedonicus syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 64754 Definition A rare, syndromic nevus characterized by the association of typically unilateral, closely arranged, linear, slightly elevated, multiple, nevus comedonicus lesions located usually on the face, neck, trunk or limbs (with or without a…
Postorgasmic illness syndrome
Postorgasmic illness syndrome (POIS) is a rare condition in which a person develops flu-like and allergy symptoms after orgasm, whether with a partner, through masturbation, or spontaneously during sleep.[1][2][3] POIS typically is reported in males (after ejaculation), but females have rarely been reported to have symptoms of POIS.[1][3] Symptoms may develop within seconds, minutes, or…
Numeric sex chromosome variations
Numeric sex chromosome variations refers to differences in the number of sex chromosomes that may be present in an individual’s body cells. Males typically have one X chromosome and one Y chromosome in each body cell with a total of 46 chromosomes (46, XY); females typically have two X chromosomes in each body cell (46, XX). Numeric…
Oligoastrocytoma
Oligoastrocytoma is a brain tumor that forms when two types of cells in the brain, called oligodendrocytes and astrocytes, rapidly increase in number to form a mass. These brain cells are known as glial cells, which normally protect and support nerve cells in the brain. Because an oligoastrocytoma is made up of a combination of two cell…
Coffin-Siris syndrome
Coffin-Siris syndrome is a genetic condition that causes variable degrees of learning disability, developmental delays, underdeveloped “pinky” toenails or fingernails, and distinct facial features. It can be caused by a change (mutation) in any of several genes including the ARID1A, ARID1B, SMARCA4, SMARCB1, DPF2 or SMARCE1 genes.[1] Coffin-Siris syndrome follows an autosomal dominant pattern of inheritance, however it…
Renal oncocytoma
Renal oncocytoma is a benign (noncancerous) growth of the kidney. They generally do not cause any signs or symptoms and are often discovered incidentally (by chance) while a person is undergoing diagnostic imaging for other conditions. Some people with renal oncocytoma will have abdominal or flank pain; blood in the urine; and/or an abdominal mass….
Holzgreve syndrome
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Sydenham’s chorea
Sydenham’s chorea is a neurological disorder characterized by rapid, jerky, irregular, and involuntary movements (chorea), especially of the face and limbs.[1][2] Additional symptoms may include muscle weakness, slurred speech, headaches, and seizures. Children with Sydenham’s chorea often have emotional or behavioral problems such as obsessive-compulsive disorder, distractibility, irritability, and inappropriate outbursts of laughing or crying.[2]…
PHACE syndrome
PHACE syndrome is the association of a large hemangioma, usually on the face or neck, in combination with one or more other birth defects.[1] People with PHACE syndrome may have Posterior fossa brain malformations, Hemangioma, Arterial lesions (blood vessel abnormalities in the head or neck), Cardiac (heart) abnormalities/aortic coarctation, and Eye abnormalities.[1] Symptoms and symptom severity…
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 83639 Definition A syndrome with combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces…
Laryngomalacia
Laryngomalacia is an abnormality of the voice box (larynx) that leads to the inward collapse of the airway when air is drawn into the lungs (inspiration). It usually becomes apparent at birth or shortly after birth. The most common symptom is noisy breathing (stridor) that is often worse when the infant is on his/her back…
Spinocerebellar ataxia 31
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 217012 Definition An autosomal dominant cerebellar ataxia type III that is characterized by the late-onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and…
SERKAL syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 139466 Definition SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. Epidemiology The syndrome is lethal and…
Marden-Walker syndrome
Marden-Walker syndrome (MWS) is a genetic condition affecting the connective tissue. MWS is very rare and information about this condition is based on less than 50 people. Features may include distinctive facial features, a cleft or high-arched palate, a small or receding jaw (micrognathia), fixed bone joints (contractures or arthrogryposis), and growth delay. Other symptoms may…
Q fever
Q fever is a worldwide disease with acute and chronic stages caused by the bacteria known as Coxiella burnetii. Cattle, sheep, and goats are the primary reservoirs although a variety of species may be infected. Organisms are excreted in birth fluids, milk, urine, and feces of infected animals and are able to survive for long…
Craniosynostosis Philadelphia type
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CHARGE syndrome
CHARGE syndrome is a congenital condition (present from birth) that affects many areas of the body. CHARGE stands for coloboma, heart defect, atresia choanae (also known as choanal atresia), restricted growth and development, genital abnormality, and ear abnormality.[1] Signs and symptoms vary among people with this condition; however, infants often have multiple life-threatening medical conditions.[2] The diagnosis of CHARGE syndrome is based on a combination of…
Tetraamelia-multiple malformations syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3301 Definition Tetraamelia multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital,…
Squamous cell carcinoma of the head and neck
Cancers that are known collectively as head and neck cancers usually begin in the squamous cells that line the moist, mucosal surfaces inside the head and neck (for example, inside the mouth, the nose, and the throat). These squamous cell cancers are often referred to as squamous cell carcinomas of the head and neck. At…
Triosephosphate isomerase deficiency
Triosephosphate isomerase (TPI) deficiency is a severe disorder characterized by a shortage of red blood cells (hemolytic anemia), neurological problems, infections, and muscle weakness that can affect breathing and heart function.[1][2] TPI deficiency is the most severe form of a group of diseases known as glycolytic enzymopathies, which are rare genetic diseases that lead to…
Intellectual disability hypoplastic corpus callosum preauricular tag
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1495 Definition Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterised by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients…
Hemangioma thrombocytopenia syndrome
Hemangioma thrombocytopenia syndrome is characterized by profound thrombocytopenia in association with two rare vascular tumors: kaposiform hemangioendotheliomas and tufted angiomas. The profound thrombocytopenia can cause life threatening bleeding and progress to a disseminated coagulopathy in patients with these tumors.[1][2] The condition typically occurs in early infancy or childhood, although prenatal cases (diagnosed with the aid of ultrasonography), newborn…
Glucose transporter type 1 deficiency syndrome
Glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome) is an inherited condition that affects the nervous system. Signs and symptoms generally develop within the first few months of life and may include recurrent seizures (epilepsy) and involuntary eye movements. Affected people may also have microcephaly (unusually small head size) that develops after birth, developmental…
Abetalipoproteinemia
Abetalipoproteinemia is a very rare condition that affects fat and vitamin absorption by the intestines and liver, leading to very low LDL-cholesterol and malnutrition. Early symptoms of this condition include diarrhea, vomiting, and poor growth. Without treatment, later complications may include muscle weakness, poor night and color vision, tremors, and speech difficulties.[1][2] The long-term outcome can…
Erythrokeratoderma ”en cocardes”
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 315 Definition A rare, genetic, epidermal disorder characterized by intermittent (remitting and recurring), annular, polycyclic, target-like (or ‘en cocardes’) plaques with concentric rings of scaling erythema occurring on the extremities, flexural areas, and trunk. Concurrent…
Chorea-acanthocytosis
Chorea-acanthocytosis is one of a group of conditions called the neuroacanthocytoses that involve neurological problems and abnormal red blood cells. The condition is characterized by involuntary jerking movements (chorea), abnormal star-shaped red blood cells (acanthocytosis), and involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, tongue, and throat. Chorea-acanthocytosis is caused…
Epidermolysis bullosa acquisita
Epidermolysis bullosa acquisita (EBA) is a rare autoimmune disorder that causes the skin to blister in response to minor injury. Common areas of blistering include the hands, feet, knees, elbows, and buttocks. It can also affect the mouth, nose, and eyes. Some affected people have other health problems such as Crohn’s disease, systemic lupus erythematosus,…
Acromegaloid facial appearance syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 965 Definition A rare multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and,…
DOCK2 Deficiency
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Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 402020 Definition A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes…
Double inferior vena cava
Double inferior vena cava is a vein abnormality that is present from birth (congenital). Individuals with this anomaly have two inferior vena cavas instead of one. The inferior vena cava carries oxygen-poor blood from the lower parts of the body into the heart. Double inferior vena cava does not cause any symptoms. It is usually diagnosed…
AP-4-Associated Hereditary Spastic Paraplegia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 280763 Definition Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly,…
Hereditary proximal myopathy with early respiratory failure
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Dysosteosclerosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1782 Definition Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly. Epidemiology Less than 30 cases have been reported in the literature to date. Clinical description The disease is characterized by sclerosis of…
Adult polyglucosan body disease
Adult polyglucosan body disease (APBD) affects the nervous system.[1] People with this disease usually begin to show signs after the age of 40.[2] Signs and symptoms include trouble walking due to peripheral neuropathy and muscle weakness and stiffness. People with APBD also develop problems with bladder control due to damage to the bladder’s nerves (neurogenic bladder)….
Toriello-Carey syndrome
Toriello-Carey syndrome is a rare condition characterized by multiple congenital anomalies. Signs and symptoms can vary but may include distinctive craniofacial features, brain abnormalities, Pierre Robin sequence, swallowing difficulties, heart defects, low muscle tone (hypotonia), and moderate to severe intellectual disability.[1] The genetic cause is not fully understood, but there is evidence it may be caused…
Erdheim-Chester disease
Erdheim-Chester disease (ECD) is a rare condition that can affect many parts of the body.[1] It has been diagnosed in children, but it most commonly affects adults.[2] ECD causes the over-production of immune cells called histiocytes, which then accumulate in tissues and organs in the body. Parts of the body that may be involved include the long…
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