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Oculorenocerebellar syndrome
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Cobb syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 53721 Definition Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve…
Onchocerciasis
Onchocerciasis is a rare tropical parasitic disease transmitted by a black fly. Infection by the parasite can cause eye and skin problems. In humans, the parasitic worms live under the skin (subcutaneous nodules) and produce larvae (microfilariae). The larvae are found throughout the body, but especially in the skin and eyes.[1] Repeated bites by infected…
Complement component 2 deficiency
Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions…
Congenital rubella
Congenital rubella refers to the group of birth defects that occur in an infant whose mother is infected with the virus that causes German measles (rubella) during pregnancy. Congenital rubella occurs when the rubella virus in the mother affects the developing baby in the first 3 months of pregnancy. After the fourth month, if the…
Congenital sucrase-isomaltase deficiency
Congenital sucrase-isomaltase deficiency (CSID) is a genetic condition that affects a person’s ability to digest certain sugars. People with this condition cannot break down the sugars sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains). CSID usually becomes apparent after an infant begins to consume…
Menkes disease
Menkes disease (MD) is an inherited condition that impacts the way the body processes copper levels in the body. MD primarily affects the nervous system and connective tissue with symptoms that tend to get worse over time. Symptoms of MD usually appear within the first few months of life and include sparse, kinky hair; slow…
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 300570 Definition A rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disease characterized by the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial…
Temtamy syndrome
Temtamy syndrome is a developmental neurological disorder, meaning that it affects the way the brain is formed and how well it functions. In most cases, the bundle of nerve fibers (the corpus callosum) that connects the two sides of the brain is partially or completely missing. Other symptoms may include seizures, changes in the size or function of…
Gracile bone dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2763 Definition Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization. Epidemiology…
Cryoglobulinemic vasculitis
Cryoglobulinemic vasculitis occurs when the body makes a mix of abnormal immune system proteins called cryoglobulins. At temperatures less than 98.6 degrees Fahrenheit (normal body temperature), cryoglobulins become solid or gel-like and can block blood vessels. This causes a variety of health problems. Many people with cryoglobulins will not experience any symptoms. When symptoms occur, they…
Corneal dystrophy and perceptive deafness
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1490 Definition Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED; see this term) with progressive, postlingual sensorineural hearing loss. Epidemiology To…
White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
White matter hypoplasiacorpus callosum agenesisintellectual disability syndrome is a very rare neurological condition. The few patients described in the medical literature were characterized by brain anomalies; an unusual face with broad nasal root, widely spaced eyes (hypertelorism), and a very small chin (micrognathia); failure to thrive; severe intellectual disability; and lack of muscle tone (hypotonia). Exams…
Hashimoto encephalopathy
Hashimoto encephalopathy (HE) affects the brain and how the brain works. Symptoms of HE may include behavior changes, confusion, cognitive difficulty, and seizures. Psychosis, including visual hallucinations and paranoid delusions, has also been reported. HE occurs mainly in adults and affects females more than males. The exact cause of HE is not known but may…
Cysticercosis
Cysticercosis is an infection caused by the pork tapeworm, Taenia solium. The condition develops when tapeworm eggs, which can be found in contaminated food, enter the body and form cysticeri (cysts). In most cases, the worms stay in the muscles and do not cause symptoms. However, symptoms may be present when the infection is found…
Brown-Sequard syndrome
Brown-Sequard syndrome is a rare neurological condition that results from an injury or damage to one side of the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia).[1][2] Brown-Sequard syndrome most commonly occurs in the the thoracic spine…
New-onset refractory status epilepticus
New-onset refractory status epilepticus (NORSE) occurs when a person without a previous history of seizures, experiences status epilepticus (SE) without a clear cause. SE describes a state in which a person has one prolonged seizure, or a cluster of seizures without recovery time in between.[1][2][3] The symptoms of NORSE typically begin with a mild fever and general symptoms…
Amelogenesis imperfecta nephrocalcinosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1031 Definition A extremely rare, genetic malformation syndrome characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption,…
2p15p16.1 microdeletion syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 261349 Definition 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. Epidemiology It has been clinically and molecularly characterized in 5 patients. Clinical description Dysmorphic features include receding forehead,…
Accessory navicular bone
An accessory navicular bone is an extra bone or piece of cartilage located in the middle of the foot near the navicular bone, the bone that goes across the foot near the instep. It is present from birth (congenital) and is a common trait.[1][2] The reported incidence differs among populations and ethnic groups, and they…
Developmental dysphasia familial
Developmental dysphasia is a language disorder that develops in children. The disorder typically involves difficulties speaking and understanding spoken words. The symptoms cannot be attributed to sensorimotor, intellectual deficits, autism spectrum, or other developmental impairments. Likewise it does not occur as the consequence of an evident brain lesion or as a result of the child’s social environment. Familial cases of developmental dyphasia have been…
Glycogen storage disease type 2
Glycogen storage disease type 2, also known as Pompe disease or acid maltase deficiency disease, is an inherited metabolic disorder.[1][2][3] While glycogen storage disease type 2 is a single disease, it may be classified in 2 forms according to the rates of disease progression, its severity and the age at which symptoms start. The classic infantile-onset starts before 12…
Diabetic mastopathy
Diabetic mastopathy are noncancerous lesions in the breast most commonly diagnosed in premenopausal women with type 1 diabetes.[1][2][3] The cause of this condition is unknown.[1][2][3][4][5] Symptoms may include hard, irregular, easily movable, discrete, painless breast mass(es).[1][4][6]
Acropectoral syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85203 Definition A rare syndrome characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. Visit the Orphanet disease page…
Male pseudohermaphroditism intellectual disability syndrome, Verloes type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2983 Definition Verloes-Gillerot-Fryns syndrome is a rare association of malformations. Epidemiology It has been described in only three patients, including two sibs. Clinical description The first patient had profound intellectual deficit. His general aspect clearly…
Broken heart syndrome
Broken heart syndrome is a temporary condition that affects the heart. In people with this condition, extreme emotional or physical stress (i.e. intense grief, anger, surprise, illness or surgery) can lead to heart muscle failure. Signs and symptoms of the condition mimic those of a heart attack and may include sudden chest pain, shortness of…
Kenny-Caffey syndrome type 2
Kenny-Caffey syndrome type 2 is a genetic disorder that affects the skeleton, head, and eyes. It causes frequent episodes of low blood calcium (hypocalcemia). This syndrome is caused by changes (pathogenic variants) in the FAM111A gene and is inherited in an autosomal dominant pattern. Treatment often includes calcium and vitamin D supplements and addressing any medical issues as…
Adrenal cancer
Adrenal cancer is a rare form of cancer that occurs due to abnormal and uncontrolled cell growth in the adrenal glands (small glands that sit above each kidney). There are three different types of adrenal cancer which vary by location and the age at which they are often diagnosed: Adrenocortical carcinoma The most common type…
Spondylometaphyseal dysplasia, Kozlowski type
Spondylometaphyseal dysplasia, Kozlowski type is a bone disease characterized by short stature involving the trunk. “Spondylo”refers to the spine (vertebrae), “metaphysis” refers to the wide part of the bone that contains the growth plate (the part of the bone that grows during childhood), and “dysplasia” means abnormal growth. It usually starts in early childhood when poor growth…
Ebola virus disease
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Graham-Cox syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 52055 Definition Corpus callosum agenesisintellectual disability-colobomamicrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum…
Morning glory syndrome
Morning glory syndrome (MGS) is a birth (congenital) defect of the nerve of the eye (optic nerve) that resembles a flower known as “morning glory”. It is characterized by an enlarged, funnel-shaped cavity of the optic disc, the point in the eye where the optic nerve fibers leave the retina. The disc is enlarged and has…
Juvenile myoclonic epilepsy
Juvenile myoclonic epilepsy is an epilepsy syndrome characterized by myoclonic jerks (quick jerks of the arms or legs), generalized tonic-clonic seizures (GTCSs), and sometimes, absence seizures. The seizures of juvenile myoclonic epilepsy often occur when people first awaken in the morning. Seizures can be triggered by lack of sleep, extreme fatigue, stress, or alcohol consumption. Onset typically occurs around…
Encephalitis lethargica
Encephalitis lethargica (EL) is a disease characterized by high fever, headache, double vision, delayed physical and mental response, extreme tiredness (lethargy), and sometimes coma. Patients may also experience abnormal eye movements, upper body weakness, muscle pain, tremors, neck rigidity, and behavioral changes including psychosis. A worldwide epidemic of EL occurred from 1917 to 1928 with more than…
Alezzandrini syndrome
Alezzandrini syndrome is a very rare syndrome characterized by retinitis pigmentosa (breakdown and loss of cells in the retina—which is the light sensitive tissue that lines the back of the eye), whitish patches in the skin (vitiligo) and whitening of eyebrow and eyelashes (poliosis) all on the same side of the face.[1][2] It is very similar to Vogt-Koyanagi-Harada…
Fish-eye disease
Fisheye disease is a rare condition that affects the eyes. People with this condition generally develop corneal clouding beginning in adolescence or early adulthood. Overtime, the condition gradually worsens and can lead to significant vision loss. Fish-eye disease is caused by changes (mutations) in the LCAT gene and is inherited in an autosomal recessive manner….
Erythema elevatum diutinum
Erythema elevatum diutinum (EED) is a disorder of the skin associated with small blood vessel inflammation (vasculitis). Symptoms include red, purple, brown or yellow bumps of different sizes that grow on or just below the skin. These growths are located mainly on the elbows, knees, ankles, hands, and fingers. People with EED may also have joint pain, but…
Amelogenesis imperfecta
Amelogenesis imperfecta (AI) (amelogenesis – enamel formation; imperfecta imperfect) is a disorder that affects the structure and appearance of the enamel of the teeth. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage with early tooth decay and loss. These dental problems, which vary among affected individuals, can affect both…
Amniotic band syndrome
Amniotic band syndrome refers to a condition in which bands develop from the inner lining of the amnion. The amnion is the sac that surrounds the baby in the womb. As the baby develops in the womb, the bands may attach to and affect the development of different areas of the body. This may result…
Polydactyly
Polydactyly is a condition in which a person has more than five fingers per hand or five toes per foot. It is the most common birth defect of the hand and foot. Polydactyly can occur as an isolated finding such that the person has no other physical anomalies or intellectual impairment. However, it can occur…
Familial cold autoinflammatory syndrome
Familial cold autoinflammatory syndrome is a type of periodic fever syndrome. Signs and symptoms may include include an itchy or burning rash; fever; and joint pain which are triggered by exposure to cold temperatures. It is inherited in an autosomal dominant manner and can be caused by mutations in the NLRP3 or NLRP12 genes. Management…
Vibratory urticaria
Vibratory urticaria is a rare condition that is characterized by itching, reddish skin and swelling within minutes of local exposure to vibration. Areas of skin that are most exposed to the stimulus (often the hands) are generally more severely affected. People with this condition may also experience flushing, headaches, fatigue, blurry vision or a metallic taste…
Familial hypercholesterolemia
?xml:namespace prefix = o /Familial hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood due to mutations in the LDLR gene. People with hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease, as well as health problems related to the buildup of excess…
Dyssegmental dysplasia Silverman-Handmaker type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1865 Definition Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic…
Familial sick sinus syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 166282 Definition Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with…
Roberts syndrome
Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities. Affected individuals are born with abnormalities of all four limbs and typically have shortened arm and leg bones (hypomelia). They may also have phocomelia (in severe cases); abnormal or missing fingers and toes; joint deformities (contractures); and numerous facial abnormalities including cleft lip with or…
Fibrochondrogenesis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2021 Definition Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small…
Aspergillosis
Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus.[1] There are several different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing and coughing, but does not actually invade and destroy tissue.[2][1] Another…
Shashi-Pena syndrome
Shashi-Pena syndrome is a rare neurologic disease characterized by delayed psychologic and motor development, variable intellectual disability, and poor muscle tone (hypotonia). Described features include tall stature, a large head (macrocephaly), deep palmar creases, and distinct facial features. These features include a port-wine birthmark on the forehead (glabellar nevus flammeus), widely spaced eyes (hypertelorism), arched eyebrows,…
Giant axonal neuropathy
Giant axonal neuropathy (GAN) is a neurodegenerative disorder characterized by abnormally large and dysfunctional axons (the specialized extensions of nerve cells that are required for the transmission of nerve impulses). The condition typically appears in infancy or early childhood with severe peripheral motor and sensory neuropathy (affecting movement and sensation in the arms and legs)….
Geleophysic dwarfism
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2623 Definition A rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as happy”). Epidemiology Fewer than 30 cases have been reported to date. Clinical…
Autoimmune pancreatitis
Autoimmune pancreatitis affects the pancreas, a gland behind the stomach and in front of the spine, and can also affect the bile ducts, salivary glands, kidneys, and lymph nodes. It is thought to occur when the immune system mistakenly begins to attack these healthy body tissues, glands, and organs. Common signs and symptoms include painless jaundice, weight loss, and noncancerous masses…
Autosomal dominant intellectual disability 30
Autosomal dominant intellectual disability 30 is a rare genetic condition characterized by developmental delay, speech delay, social difficulties and behavioral problems. Other symptoms and features may include aggressive behavior with mood swings in childhood, unusual facial features (wide spaced eyes (hypertelorism), drooping eyelids (ptosis), and a wide mouth), autism spectrum disorder, poor muscle tone (hypotonia),…
Keratoderma palmoplantar spastic paralysis
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Hennekam syndrome
Hennekam syndrome is a rare condition that affects the lymphatic system. Signs and symptoms of the condition are generally noticeable at birth and vary significantly from person to person, even within the same family. Affected people generally experience lymphangiectasia (lymphatic vessels that are abnormally expanded), lymphedema, and distinctive facial features (i.e. a flattened appearance to…
BAP1 tumor predisposition syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 289539 Definition BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma,…
Hereditary alpha tryptasemia syndrome
Hereditary alpha tryptasemia syndrome is a condition characterized by high blood tryptase levels, and by several symptoms associated with multiple organ systems. These symptoms may include allergic-like symptoms (skin itching, flushing, hives, or anaphylaxis); gastrointestinal symptoms such as bloating, abdominal pain, diarrhea and/or constipation (often diagnosed as irritable bowel syndrome), heartburn, reflux, and difficulty swallowing;…
Hyper IgE syndrome
Hyper IgE syndromes (HIES) are rare primary immune deficiencies characterized by elevated serum IgE, skin inflammation (dermatitis) and recurrent skin and lung infections. There are two forms of HIES, which have the above characteristics in common but otherwise have distinct presentations, courses and outcomes: autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES).[1] Click on…
Blue rubber bleb nevus syndrome
Blue rubber bleb nevus syndrome is a condition in which the blood vessels do not develop properly in an area of the skin or other body organ (particularly the intestines). The malformed blood vessels appear as a spot or lesion called a nevus. The underlying blood vessel malformations are present from birth even though the nevus may not…
Homocystinuria
Homocystinuria refers to a group of inherited disorders in which the body is unable to process certain building blocks of proteins (amino acids) properly. This leads to increased amounts of homocysteine and other amnio acids in the blood and urine. The most common type of genetic homocystinuria, called CBS deficiency, is caused by the lack…
Primary hyperoxaluria type 3
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GM1 gangliosidosis type 1
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…
Multicystic renal dysplasia, bilateral
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 97364 Definition Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large,…
Prolidase deficiency
Prolidase deficiency is a rare metabolic condition characterized by skin lesions, recurrent infections, unusual facial features, variable intellectual disability, enlargement of the liver (hepatomegaly) with elevated liver enzymes, and enlargement of the spleen (splenomegaly).[1][2][3] Symptoms typically present during infancy and vary greatly among affected individuals.[2] The condition is caused by mutations in the PEPD gene. It is inherited in…
Platelet storage pool deficiency
Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their…
Blepharophimosis with ptosis, syndactyly, and short stature
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2057 Definition A rare syndrome characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the…
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