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Madras motor neuron disease
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 137867DefinitionMadras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss.EpidemiologyLess than 200 cases have be reported to date, predominantly from Southern India. Isolated MMND…
Malignant mesothelioma
Malignant mesothelioma is a form of cancer that develops in the thin layer of tissue that surrounds the lungs, chest wall, or abdomen. Signs and symptoms of the condition can vary and often depend on which area of the body is affected. Common features include abdominal bloating, abdominal pain, chest pain, coughing, fatigue, shortness of…
Cheilitis glandularis
Cheilitis glandularis is a rare inflammatory disorder of the lip.[1] It is mainly characterized by swelling of the lip with hyperplasia of the salivary glands; secretion of a clear, thick mucus; and variable inflammation.[2] Enlargement and chronic exposure of the mucous membrane on the lower lip becomes affected by the environment, leading to erosion, ulceration, crusting, and,…
Metaphyseal chondrodysplasia Schmid type
Metaphyseal chondrodysplasia, Schmid type (MCDS) is a type of skeletal disorder in which there is abnormal bone formation at the end of the long bones (metaphyses). Symptoms include short stature with abnormally short arms and legs (short-limbed dwarfism) and bowed legs (genu varum). Additional signs and symptoms may include lumbar lordosis, leg pain, joint pain,…
Zunich neuroectodermal syndrome
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Singleton-Merten syndrome
Singleton-Merten syndrome is a very rare disease that affect many organs. The main features are tooth abnormalities with gum infection; calcifications in the aorta artery and in certain valves of the heart (i.e., aortic and mitral valves); and progressive thinning and weakening of the bones (osteoporosis), especially in the upper and back portions of the skull. Other…
Ring chromosome 10
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1438 Definition An autosomal anomaly characterized by variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly, and dysmorphic…
Monoclonal gammopathy of undetermined significance
Monoclonal gammopathy of undetermined significance (MGUS) is a condition in which an abnormal protein called monoclonal protein is detected in the blood. MGUS typically does not cause any problems, although some affected people may experience numbness, tingling or weakness. In some cases, MGUS may progress over time to certain forms of blood cancer (such as…
Syndromic microphthalmia-12
Syndromic microphthalmia-12 is a genetic syndrome with the main features of small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia).[1] People with this syndrome also have progressive movement disorders that cause severe global…
Morvan’s fibrillary chorea
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 83467 Definition Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis)…
Chromosome 2q24 microdeletion syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1617 Definition 2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which…
Scheie syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93474 Definition Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development. Epidemiology Prevalence is estimated…
Chromosome 6p deletion
Chromosome 6p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 6. 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…
IgG4-related dacryoadenitis and sialadenitis
IgG4-related dacryoadenitis and sialoadenitis (formerly called Mikulicz disease) is an IgG4-related disease characterized by inflammation of the lacrimal glands (which produce tears), parotid glands, and submandibular glands (two of the major salivary glands).[1] In some cases, it also affects other glands or organs.[1][2] The condition is usually painless, mainly causing mouth and eye dryness, and swelling…
Myotonia congenita
Myotonia congenita is a genetic disease characterized by the inability of the skeletal muscles to quickly relax after voluntary movements. Symptoms typically begin in childhood and vary from person to person. They may include muscle stiffness, muscle weakness, and attacks of weakness brought on by movement after rest. There are two forms of myotonia congenita: Becker disease, which is…
Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia (CPEO) is a condition characterized mainly by a loss of the muscle functions involved in eye and eyelid movement. Signs and symptoms tend to begin in early adulthood and most commonly include weakness or paralysis of the muscles that move the eye (ophthalmoplegia) and drooping of the eyelids (ptosis).[1][2] Some affected…
Neonatal progeroid syndrome
Neonatal progeroid syndrome is a rare genetic syndrome characterized by an aged appearance at birth. Other signs and symptoms include intrauterine growth restriction, feeding difficulties, distinctive craniofacial features, hypotonia, developmental delay and mild to severe intellectual disability. In most cases, affected infants pass away before age 7 months, but rare reports exist of survival into…
Neuronal ceroid lipofuscinosis 6
Neuronal ceroid lipofuscinosis 6 (CLN6-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus),…
Craniometaphyseal dysplasia, autosomal dominant
Autosomal dominant craniometaphyseal dysplasia is a genetic skeletal condition characterized by progressive thickening of bones in the skull (cranium) and abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia).[1][2] The overgrowth of bones in the head can lead to distinctive facial features and delayed tooth eruption, as well as compression of the cranial…
Omsk hemorrhagic fever
Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is an infection that occurs primarily in the western Siberia regions of Omsk, Novosibirsk, Kurgan and Tyumen. People can become infected from tick bites, or from contact with the blood, feces, or urine of an infected or dead animal (most commonly a rodent who was…
Collins Pope syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2412 Definition Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal…
Leukoencephalopathy with thalamus and brainstem involvement and high lactate
Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is a rare disorder that affects the brain. It is part of a group of disorders known as leukodystrophies. Leukodystrophies are diseases that affect the white matter of the brain. The white matter contains nerve fibers (axons), surrounded by a type of sheath or covering…
Congenital tracheomalacia
Congenital tracheomalacia is when an infant is born with weak cartilage around the windpipe (trachea) that makes it difficult to keep the airway open.[1] The trachea can collapse when breathing out. Symptoms vary from mild to severe and may include noisy breathing (stridor), shortness of breath, difficulty breathing, and bluish skin (cyanotic spells). Symptoms typically worsen…
Congenital Zika syndrome
Congenital Zika syndrome is caused by exposure to the Zika virus before birth. This may happen if the mother is infected from a mosquito bite or through sexual contact with an affected partner. Signs and symptoms of congenital Zika syndrome include birth defects (like small head size) and other health and development problems.[1][2] Zika virus outbreaks are…
Polycystic ovarian syndrome
Polycystic ovarian syndrome (PCOS) is a health problem that can affect a woman’s menstrual cycle, ability to have children, hormones, heart, blood vessels, and appearance. Women with this condition typically have high levels of hormones called androgens, missed or irregular periods, and many small cysts in their ovaries. The cause of PCOS is unknown, but probably involves a…
Curry Jones syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1553 Definition Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands…
Pfeiffer Mayer syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2921 Definition Preaxial polydactyly-colobomataintellectual disability syndrome is characterised by growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of sibs (brother and sister). The mode of transmission is…
Polycystic kidneys, severe infantile with tuberous sclerosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 88924 Definition Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterised by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system)….
Spastic paraplegia 1
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2466 Definition A X-linked, clinical subtype of L1 syndrome, characterized by mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of…
Plasmacytoma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 86855 Definition Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of…
Halal Setton Wang syndrome
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Porokeratosis of Mibelli
Porokeratosis of Mibelli is a skin condition that usually develops in children or young adults. It begins as one or a few small, brownish bumps that grow into raised, bumpy patches. These patches slowly increase in size over time. The cause of this condition is unknown, though exposure to sunlight or other forms of radiation, genetic factors and a weakened…
Cutis verticis gyrata
Cutis verticis gyrata (CVG) refers to deep folds on the scalp that look similar to the folds of the brain.[1][2] It occurs more commonly in males, and most commonly develops after puberty, but before age 30. It may occur alone (isolated CVG) or in association with a variety of underlying conditions or treatments, including neuropsychiatric…
Tangier disease
Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) the ‘good cholesterol’ in the blood. Because people with Tangier disease have very low levels of HDL, they have a moderately increased risk of cardiovascular disease. Tangier disease is caused by mutations in the ABCA1 gene. It is inherited in an…
D-2-hydroxyglutaric aciduria
D-2-alpha hydroxyglutaric aciduria is an inherited metabolic condition that is associated with progressive brain damage. Signs and symptoms of this condition include developmental delay, seizures, hypotonia, and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. D-2-alpha hydroxyglutaric aciduria…
Pulmonary atresia with ventricular septal defect
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1207 Definition Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD)…
Greenberg dysplasia
Greenberg dysplasia is a very severe disorder that that affects the bones.[1] It is called a skeletal dysplasia because the bones do not develop properly. This condition is sometimes called HEM based on the main features of Hydrops fetalis, Ectopic calcifications, and “Moth-eaten” appearance of the skeleton. Greenberg dysplasia is an autosomal recessive condition caused by a mutation in the…
ROHHAD
ROHHAD is an acronym for rapid-onset obesity (RO) with hypothalamic dysregulation (H), hypoventilation (H), and autonomic dysregulation (AD). It is a rare, life-threatening syndrome that affects the autonomic nervous system (which controls involuntary actions like breathing and your heartbeat) and the endocrine system. As the name suggests, the key features include dramatic weight gain over a sixto…
Progressive hemifacial atrophy
Progressive hemifacial atrophy (PHA), also known as Parry-Romberg syndrome, is characterized by slowly progressive deterioration of the skin and soft tissues on one side of the face.[1] It sometimes occurs on both sides of the face and occasionally involves the arm, trunk, and/or leg.[2][3][4] The condition may worsen for 2 to 20 years and then stabilize….
Ankylosis of teeth
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1077 Definition A rare disorder characterized by the fusion of the tooth to the bone, preventing both eruption and orthodontic movement. Epidemiology The prevalence is unknown. Clinical description The periodontal ligament is obliterated by a…
Scurvy
Scurvy is a condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include…
Ruvalcaba syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3121 Definition Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature,…
Radioulnar synostosis-developmental delay-hypotonia syndrome
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Doyne honeycomb retinal dystrophy
Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized by small, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium (the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early…
Ulnar-mammary syndrome
Ulnar-mammary syndrome (UMS) is a rare genetic syndrome, present from birth, that affects the development of several parts of the body. Features of UMS can be mild to severe and can vary significantly from person to person, even within the same family. The main features of UMS include upper limb defects (including abnormal or incomplete development…
Acquired Von Willebrand syndrome
Acquired von Willebrand syndrome (AVWS) is a bleeding disorder that can occur due to a variety of conditions, but is not caused by a VWF gene mutation. It is most often seen in persons over age 40 years with no prior bleeding history. This condition may result from lymphoproliferative disorders, autoimmune disorders (including systemic lupus erythrematosus, scleroderma, and antiphospholipid…
Ribbing disease
Ribbing disease is a rare disease that causes bony growths to develop on the long bones. These bony growths most commonly affect the long bones of the lower legs, such as the thigh bone (femur) and shin bone (tibia) but can also affect the long bones of the arms. Signs and symptoms of the disease…
Sezary syndrome
Sezary syndrome is an aggressive form of cutaneous T-cell lymphoma which is a group of disorders that occur when T-cells (a type of white blood cell) become cancerous and affect the skin. It is characterized by a widespread red rash that may cover most of the body, the presence of cancerous T cells (called Sezary…
Fetal hydantoin syndrome
Fetal hydantoin syndrome is a disorder that is caused by exposure of a fetus to phenytoin, a drug commonly prescribed for epilepsy. Not all infants exposed to phenytoin will be affected with the disorder. Symptoms in affected individuals may include abnormalities of the skull and facial features, growth deficiencies, underdeveloped nails of the fingers and…
Distal chromosome 18q deletion syndrome
Distal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material at the end of the long arm (q) of chromosome 18. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are…
Spastic paraplegia 8
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100989 Definition A pure or complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, that may…
Acute posterior multifocal placoid pigment epitheliopathy
Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is an acquired, inflammatory eye condition affecting the retina, retinal pigment epithelium (pigmented layer of the retina), and choroid. It usually affects both eyes and is characterized by multiple, yellow-white lesions in the back of the eye. The condition can significantly impair visual acuity if the macula is…
Leprechaunism
Leprechaunism is a congenital (present from birth) condition characterized by extreme insulin resistance, preand postnatal growth delays, characteristic facial features, skin abnormalities, muscular hypotrophy (reduced muscle mass) and enlarged external genitalia in both males and females. The condition is caused by mutations in the insulin receptor gene (INSR) gene. It is inherited in an autosomal recessive manner.[1][2][3]
Osteogenesis imperfecta type I
Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. Osteogenesis imperfecta type 1 is the mildest form of OI and is characterized by bone fractures during childhood and adolescence that often result from minor trauma. Fractures occur less frequently in adulthood. People with mild forms of the condition typically have a blue…
Duplication of urethra
Duplication of urethra is a very rare condition where there is an extra urethra, instead of the normal one. Urethral duplications can be classified into three types: incomplete urethral duplication (type 1), complete urethral duplication (type 2), and urethral duplication as a result of two bladdersThe urethra is the tube that connects the urinary bladder to the genitals for the removal…
Autosomal dominant partial epilepsy with auditory features
Autosomal dominant partial epilepsy with auditory features (ADPEAF) is a rare form of epilepsy, a condition that is characterized by recurrent seizures. In ADPEAF, specifically, most affected people experience secondary generalized seizures and partial seizures, some of which are associated with sound-related symptoms (such as buzzing, humming, or ringing) and/or receptive aphasia (inability to understand…
Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Multiple congenital anomalieshypotoniaseizures syndrome type 2 (MCAHS2) is a genetic neurodevelopmental disorder characterized by distinctive facial features, low muscle tone (hypotonia) at birth, myoclonic seizures (which cause jerks or twitches of the upper body, arms, or legs), and various other problems involving the central nervous system, heart, and urinary system. Specific symptoms (especially those not…
Toxocariasis
Toxocariasis is a parasitic condition caused by the larvae of two species of Toxocara roundworms: Toxocara canis (from dogs) and Toxocara cati (from cats). Many people who are infected with Toxocara never develop any signs or symptoms of the condition. In those who do become sick, symptoms may present as: Ocular Toxocariasis when the larvae…
Agammaglobulinemia, non-Bruton type
Agammaglobulinemia, non-Bruton type is a rare form of agammaglobulinemia, which is a primary immunodeficiency characterized by very low levels of immunoglobulins (proteins made by the immune system to help fight infections). People affected by this condition generally begin developing frequent and recurrent bacterial infections from about 6 months of age. Commonly diagnosed infections include lung…
Urocanase deficiency
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Congenital diaphragmatic hernia
Congenital diaphragmatic hernia (CDH) is a condition present before birth characterized by abnormal development of the diaphragm. The diaphragm normally separates the organs in the abdomen from those in the chest. The severity of CDH may range from a thinned area in part of the diaphragm, to its complete absence. CDH may allow the stomach and intestines…
Anterior ischemic optic neuropathy
Anterior ischemic optic neuropathy (AION) is an eye disease characterized by infarction of the optic disk leading to vision loss. It can be nonarteritic (nonarteritic anterior ischemic optic neuropathy or NAION) or arteritic, the latter being associated with giant cell arteritis (GCA; often termed temporal arteritis).[1] Vision loss with both varieties is typically rapid (over…
Ethylmalonic encephalopathy
Ethylmalonic encephalopathy (EE) causes damage to the brain, nerves, and blood vessels. Symptoms are present at birth and tend to get worse over time. These include low muscle tone, spasms of the arms and legs, seizures, and developmental delay. Blood vessel damage causes tiny red spots under the skin (petechiae) and blue discoloration in the hands…
X-linked intellectual disability short stature – obesity
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3055 Definition X-linked intellectual disabilityhypogonadism-ichthyosis-obesityshort stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further…
ALG12-CDG (CDG-Ig)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79324 Definition A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory…
Hepatic encephalopathy
Hepatic encephalopathy is a syndrome observed in some patients with cirrhosis. It is defined as a spectrum of neuropsychiatric abnormalities in patients with liver dysfunction, when other known brain disease has been excluded.[1] Signs and symptoms may be debilitating, and they can begin mildly and gradually, or occur suddenly and severely.[2] They may include personality or mood changes, intellectual…
Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 231556 Definition Late-onset localized jonctional epidermolysis bullosaintellectual disability syndrome is a rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with…
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