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Distal renal tubular acidosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 18 Definition Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms…
Marchiafava Bignami disease
Marchiafava Bignami disease is defined by characteristic demyelination of the corpus callosum (erosion of the protective covering of nerve fibers joining the 2 hemispheres of the brain).[1][2] The disease seems to most often affect severe and chronic alcoholics in their middle or late adult life.[2][3] Early symptoms may include depression, paranoia, psychosis, or dementia. Seizures…
Adams-Oliver syndrome
Adams-Oliver syndrome (AOS) is a rare disease characterized by an abnormality of skin development (areas of missing skin on the scalp called aplasia cutis congenita) and malformations of the hands and feet (terminal transverse limbs defects). The aplasia cutis may involve only the skin or include the skull under the skin. The terminal transverse limb…
Spinocerebellar ataxia
Spinocerebellar ataxia (SCA) is a term referring to a group of hereditary ataxias that are characterized by degenerative changes in the part of the brain related to the movement control (cerebellum), and sometimes in the spinal cord.[1] There are many different types of SCA, and they are classified according to the mutated (altered) gene responsible…
Drug reaction with eosinophilia and systemic symptoms
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 139402 Definition A rare hypersensitivity reaction characterized by a generalized skin rash, fever, eosinophilia, lymphocytosis and visceral involvement (hepatitis, nephritis, pneumonitis, pericarditis and myocarditis) and, in some patients, reactivation of human herpes virus 6. Epidemiology…
Adenoid cystic carcinoma
Adenoid cystic carcinoma (ACC) is a rare form of adenocarcinoma, a type of cancer that begins in glandular tissues. It most commonly arises in the major and minor salivary glands of the head and neck.[1] It can also occur in the breast, uterus, or other locations in the body.[1][2] Symptoms depend on the tumor‘s location. Salivary gland…
Dykes Markes Harper syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2274 Definition Ichthyosishepatosplenomegaly-cerebellar degeneration syndrome is characterised by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked. Visit the Orphanet disease page for more…
3-beta-hydroxysteroid dehydrogenase deficiency
3-beta-hydroxysteroid dehydrogenase (3BHSD) deficiency is a form of congenital adrenal hyperplasia, a group of conditions that interfere with the body’s ability to make hormones. People with this condition lack many of the hormones made in the gonads (testes or ovaries) and the adrenal glands. There are three types of 3BHSD deficiency the salt-wasting form, non-salt-wasting form,…
Dysostosis peripheral
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1795 Definition Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very…
Stomach cancer
Stomach cancer, also called gastric cancer, is a form of cancer that occurs due to abnormal and uncontrolled cell growth in the stomach. Most people with early stomach cancer have no signs or symptoms of the condition. In advanced stages, symptoms may include indigestion; nausea and vomiting; difficulty swallowing; feeling full after eating small amounts of…
Sudden infant death syndrome
Sudden infant death syndrome (SIDS) is the unexpected, sudden death of a child under age 1 which cannot be explained after a thorough investigation is conducted. Infants who are affected by the condition generally appear healthy with no suspicious signs and symptoms prior to the incident.[1][2] It is the leading cause of death in infants…
Holocarboxylase synthetase deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79242 Definition A life-threatening early-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma….
Penis agenesis
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Spastic paraplegia 26
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101006 Definition Autosomal recessive spastic paraplegia type 26 (SPG26) is a rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to…
Ectodermal dysplasia with natal teeth Turnpenny type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 69083 Definition A rare ectodermal dysplasia syndrome characterized by neonatal teeth, hypoor oligodontia of the secondary dentition, flexural acanthosis nigricans, and sparse body and scalp hair (the latter being thin and slow-growing). There have been…
Nephropathy, deafness, and hyperparathyroidism
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2668 Definition A rare syndrome characterised by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous patents. The mode of inheritance appears to be autosomal…
Primary hyperoxaluria type 1
Primary hyperoxaluria type 1 (PH1) is a rare disorder that mainly affects the kidneys. It results from buildup of a substance called oxalate, which normally is filtered through the kidneys and excreted in the urine. In people with PH1, the accumulated oxalate is deposited in the kidneys and urinary tract. It combines with calcium, forming…
Synovial Chondromatosis
Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint.[1] Some tumors may be no larger than a grain…
Pontocerebellar hypoplasia type 4
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 166063 Definition Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH (see this term), characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an…
Thoracic outlet syndromes
Thoracic outlet syndromes (TOSs) are a group of disorders with one common feature: the compression of 1 or more of the nerves and/or blood vessels just above the first rib and behind the collarbone.[1][2] There are 4 recognized subtypes of TOS, each with a distinct cause and pattern of symptoms. A fifth subtype is controversial.[1][3][4] While…
Alpha-ketoglutarate dehydrogenase deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 31 Definition A rare, genetic, inborn error of metabolism disorder characterized by neonatal-onset of developmental delay, hypotonia, hepatomegaly, lactic acidemia, increased creatine kinase levels, elevated alpha-ketoglutaric acid in urine, and a decreased plasma beta-hydroxybutyrate-to-acetoacetate ratio….
Transient global amnesia
Transient global amnesia (TGA) is a condition characterized by sudden onset of memory loss and confusion. During an episode of TGA, a person is not able to make new memories. The person may be disoriented in regard to time and place, but can remember who they are and can recognize family members. TGA typically lasts…
Pacman dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1952 Definition A rare disorder characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower…
UV sensitive syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 178338 Definition A rare photodermatosis characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of developing skin tumors. Telangiectasia may also be observed, but no other clinical abnormalities. Patients present in infancy or…
Olfactory neuroblastoma
Olfactory neuroblastoma is a rare cancer of the upper part of the nasal cavity called the cribiform plate, which is a bone deep in the skull between the eyes, and above the ethmoid sinuses. It accounts for about 5% of all cancers of the nasal cavity and paranasal sinuses. It develops in nerve tissue associated…
Anaplastic astrocytoma
Anaplastic astrocytoma is a rare, cancerous (malignant) type of brain tumor that arises from star-shaped brain cells called astrocytes. These cells surround and protect nerve cells in the brain and spinal cord. An anaplastic astrocytoma usually develops slowly over time, but may develop rapidly. Signs and symptoms vary depending on the location and size of…
Vulvar cancer
Vulvar cancer is the abnormal growth of cells of the vulva, which is part of the female reproductive system and includes the vaginal lips, clitoris, and part of the vagina. Symptoms of vulvar cancer may consist of a lump (mass), itching, or unusual bleeding. Though the exact cause of this cancer is unknown, older women and…
Revesz syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3088 Definition Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia,…
Familial hemophagocytic lymphohistiocytosis
Hemophagocytic lymphohistiocytosis (HLH) is a condition in which the body makes too many activated immune cells (macrophages and lymphocytes).[1] People with HLH usually develop symptoms within the first months or years of life. Symptoms may include fever, enlarged liver or spleen, cytopenia (decreased number of blood cells), and neurological abnormalities.[2][3] HLH may be inherited in…
Aniridia renal agenesis psychomotor retardation
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1064 Definition An extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis…
Pyridoxine-dependent epilepsy
Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth. Those affected typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxine-dependent epilepsy….
Testotoxicosis
Testotoxicosis is a form of gonadotropin-independent precocious puberty in which boys experience early onset and progression of puberty. The disease generally presents between 2 and 4 years of age. Patients have accelerated growth, early development of secondary sexual characteristics and reduced adult height. Testotoxicosis is caused by an activating mutation of the luteinizing hormone receptor…
Barraquer-Simons syndrome
Barraquer-Simons syndrome, or acquired partial lipodystrophy, is characterized by the loss of fat from the face, neck, shoulders, arms, forearms, chest and abdomen.[1] Occasionally the groin or thighs are also affected. Onset usually begins in childhood following a viral illness.[1] It affects females more often than males. The fat loss usually has a 18 month course, but can…
Apocrine carcinoma
Apocrine carcinoma is a cancer of a sweat gland. Apocrine carcionoma most often develops under the arm (the axilla), but it can develop on the scalp or other parts of the body.[1][2] The cause of apocrine carcinoma is unknown. Apocrine carcinoma usually appears as a single, small, painless bump (nodule) that can vary in color and slowly…
Arhinia choanal atresia microphthalmia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1135 Definition A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Visit the Orphanet disease page for more resources.
Trimethylaminuria
Trimethylaminuria causes the body to produce a fishy odor that is released in the sweat, urine, breath, and reproductive fluids. People with trimethylaminuria are unable to break down trimethylamine. Trimethylamine comes from specific chemicals (choline, carnitine, TMAO) found in certain foods. The excess trimethylamine builds up and is the source of the odor. There are no…
Superior mesenteric artery syndrome
Superior mesenteric artery syndrome (SMAS) is a digestive condition that occurs when the duodenum (the first part of the small intestine) is compressed between two arteries (the aorta and the superior mesenteric artery). This compression causes partial or complete blockage of the duodenum.[1] Symptoms vary based on severity, but can be severely debilitating.[2] Symptoms may…
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as intellectual disability with language impairment and with or without autistic features, is a disorder characterized by global developmental delay with moderate to severe speech delay that affects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting eyelid folds (palpebral fissures), short…
Childhood apraxia of speech
Childhood apraxia of speech occurs in children and is present from birth. It appears to be more common in boys than girls.[1] Children with this condition have difficulty planning and producing the precise, refined, and specific movements of the tongue, lips, jaw, and palate that are necessary for intelligible speech.[2] In many cases, the underlying cause…
Furunculous myiasis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 591 Definition Furuncular myiasis in humans is caused by two species: the Cayor worm (larvae of the African tumbu fly Cordylobia anthropophaga) and the larvae of the human botfly (Dermatobia hominis). Epidemiology The prevalence is…
Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) is a milder and later onset form of a genetic condition known as congenital adrenal hyperplasia. Some people affected by the condition have no associated signs and symptoms while others experience symptoms of androgen (male hormone) excess. Women with NCAH are generally born with normal female…
Glaucoma, Ectopia, Microspherophakia, Stiff joints and Short stature syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2084 Definition Glaucoma-ectopia-microspherophakia-stiff jointsshort stature syndrome is characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It…
Autosomal dominant deafness-onychodystrophy syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79499 Definition Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges. Epidemiology The prevalence is unknown…
PACS1-related syndrome
PACS-1 related syndrome causes intellectual disability, developmental delay, and distinctive facial features. This condition is present from birth. Symptoms of PACS-1 related syndrome may include low muscle tone, feeding difficulties, constipation, seizures, and heart defects. PACS1-related syndrome is caused by a specific genetic variant in the PACS1 gene. In most cases, this gene variant is not inherited, but occurs as a…
Mesangial proliferative glomerulonephritis
Mesangial proliferative glomerulonephritis (MPGN) is a condition that affects the kidneys. Many experts consider it a variant of minimal change disease, but some experts believe it is a separate condition. It may present with nephrotic syndrome, which is a group of symptoms that include protein in the urine (proteinuria), low blood protein levels, high cholesterol…
MYH-associated polyposis
MYH-associated polyposis is an inherited condition characterized by the development of multiple adenomatous colon polyps and an increased risk of colorectal cancer.[1][2] This condition, a milder form of familial adenomatous polyposis (FAP), is sometimes called autosomal recessive familial adenomatous polyposis because it is inherited in an autosomal recessive manner. People with this condition have fewer polyps than those with the classic type…
Swyer syndrome
Swyer syndrome is a genetic condition affecting sexual organ development, classified as a disorder of sex development (DSD). In Swyer syndrome, people with one X chromosome and one Y chromosome, normally present in males, are born with female external genitalia and underdeveloped gonads (ovaries or testes) known as streak gonads. Most people with Swyer syndrome are…
Osteopetrosis autosomal recessive 5
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,…
Granulomatous rosacea
Granulomatous rosacea is a type of rosacea, a long-term (chronic) skin condition involving inflammation of the cheeks, nose, chin, forehead, or eyelids.[1][2] Rosacea causes redness and pimples, mainly across the face. Granulomatous rosacea is a type of rosacea that occurs mainly around the cheeks, eyes, and mouth. The symptoms include yellowish-brown or pink bumps (papules) on the…
Ayazi syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1435 Definition Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also…
Hepatic venoocclusive disease with immunodeficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79124 Definition Hepatic veno-occlusive diseaseimmunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease. Epidemiology Prevalence…
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 221043 Definition Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal…
Hypotrichosis simplex
Hypotrichosis simplex is a rare form of hereditary hair loss without other abnormalities. Affected individuals typically show normal hair at birth, but experience hair loss and thinning of the hair shaft that starts during early childhood and progresses with age. Hypotrichosis simplex can be divided into 2 forms: the scalp-limited form and the generalized form, in which all…
Brachydactyly type A6
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93382 Definition Brachydactyly A6 (BDA6) is characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has…
HMG CoA synthetase deficiency
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Tylosis with esophageal cancer
Tylosis with esophageal cancer (TOC)is an inherited condition that increases the risk for esophageal cancer. The symptoms of TOC include thickening of the skin on the palms and soles of the feet (palmoplantar keratoderma) and white lesions inside the mouth. People with TOC are at very high risk to develop esophageal cancer. The palmoplantar keratoderma…
Hydroxyprolinemia
Hydroxyprolinemia is an inherited metabolic condition characterized by elevated levels of the amino acid hydroxyproline in the blood and urine. This condition usually does not cause physical or cognitive abnormalities. Hydroxyprolinemia was initially described in association with intellectual disabilities; however it has also been reported in cognitively normal individuals and is thus thought to be begnin. Hydroxyprolinemia…
Facial ectodermal dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1807 Definition Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial dermal dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which…
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 59303 Definition Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. Epidemiology Less than ten patients (from unrelated consanguineous Moroccan families and…
Porencephaly cerebellar hypoplasia internal malformations
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Brachydactyly type E
Brachydactyly type E is a genetic disorder that causes some of the bones of the hands or feet to be shorter than expected. Other signs of the disorder may include having very flexible joints (hyperextensibility) in the hands and being shorter than family members who do not have the disorder (short stature).[1][2] Brachydactyly type E…
Brain dopamine-serotonin vesicular transport disease
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 352649 Definition A rare infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances. Epidemiology The prevalence is unknown. It has been described in 8 patients from one Saudi Arabian…
Juberg Marsidi syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93972 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 but since its…
Monoamine oxidase A deficiency
Monoamine oxidase A deficiency is a rare condition that is characterized by mild intellectual disability and behavioral difficulties (including aggressive and sometimes violent behaviors and autistic features). Affected people may also experience night terrors, tremor, stereotypical hand movements, and/or occasional body twitches. Signs and symptoms generally develop in childhood and the condition is seen almost…
Pancreatic neuroendocrine tumor
A pancreatic neuroendocrine tumor, also called an islet cell tumor, is a type of neuroendocrine tumor (NET) that typically arises in the pancreas. However in some cases, a pancreatic NET occurs outside of the pancreas. A NET arises from cells that produce hormones, so the tumor can also produce hormones.[1] It may be benign (not…
Weaver syndrome
Weaver syndrome is a rare condition that is characterized primarily by tall stature. Other signs and symptoms of the condition may include macrocephaly (unusually large head size); intellectual disability; distinctive facial features; camptodactyly (permanently bent digits) of the fingers and/or toes; poor coordination; soft and doughy skin; umbilical hernia; abnormal muscle tone; and a hoarse, low-pitched…
Keutel syndrome
Keutel syndrome is an inherited condition characterized by cartilage calcification in the ears, nose, larnyx, trachea (voice box), and ribs; pulmonary artery stenoses; brachytelephalangism (short fingers and nails that resemble drumsticks); and facial dysmorphism. Less than 30 cases have been reported in the literature. The majority of affected individuals have been diagnosed during childhood. Other associated…
Carney complex
Carney complex is an inherited condition characterized by spotty skin pigmentation, cardiac (heart) myxomas (tumors composed of mucous connective tissue), skin myxomas, endocrine tumors or over-activity, and schwannomas. Some families with this condition have been found to have mutations in the PRKAR1A gene. Carney complex is believed to be inherited in an autosomal dominant manner, which means…
MPI-CDG (CDG-Ib)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79319 Definition MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin),…
Limb-girdle muscular dystrophy, type 2G
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 34514 Definition A mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging,…
Lubinsky syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2410 Definition This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family. Genetic counseling An autosomal recessive mode…
Lipoic acid synthetase deficiency
Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth,…
Lymphocytic colitis
Lymphocytic colitis is form of microscopic colitis, a condition that is characterized by inflammation of the colon (large intestines). As the name suggests, microscopic colitis can only be diagnosed by examining a small sample of colon tissue under a microscope. In lymphocytic colitis, specifically, the tissues and lining of the colon are of normal thickness,…
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